id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
fabry:824932 | B.C.P. Jansen Institute, University of Amsterdam, Amsterdam, The Netherlands. | [
"In a patient with Fabry's disease who had undergone kidney transplantation to correct uremia, the neutral glycosphingolipids and alpha-galactosidase activity have been measured in plasma and urine and, 9 months later, after the death of the patient, in autopsy material. After transplantation, there was no signific... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Fabry's disease",
"uremia",
"Fabry"
] | null | null | [
"kidney transplantation",
"transplantation",
"renal transplantation"
] | null | [
"neutral glycosphingolipids and alpha-galactosidase activity",
"measured in plasma and urine",
"the activity found never exceeded 3% of the mean control value",
"increase and decrease of trihexosylceramide and globoside",
"The alpha-galactosidase activity in spleen and liver was as low as that observed in u... | [
"no significant increase in alpha-galactosidase activity in plasma",
"specific enzymic breakdown of trihexosylceramide",
"no trihexosylceramide accumulation was observed in the transplanted kidney"
] |
fabry:811519 | [Fabry-Anderson's disease]. | [
"Fabry's disease was originally considered a skin disease. Mainly affected are epidermis, kidney, heart and vessels. Newer studies show that the disease is an inherited defect of metabolism with abnormal accumulation of \"Zeramid-Tri- or-Dihexoside\" in different organs. The main clinical symptoms are epidermal cha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"skin disease"
] | [
"inherited defect of metabolism"
] | [
"epidermis, kidney, heart and vessels",
"epidermal changes",
"cornea verticillata",
"kidney changes"
] | null | null | [
"activity of alpha-galactosidase in the blood is reduced"
] | null |
fabry:812352 | Cardiac manifestations of Fabry's disease. Report of a case with mitral insufficiency and electrocardiographic evidence of myocardial infarction. | [
"The light and electron microscopic findings in the heart of a patient with Fabry's disease are described. The study revealed that all cardiac tissues, including the conducting tissues and the valves, were involved. The latter finding was of particular interest since the patient was known to have mitral insufficien... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n light and electron microscopic findings in the heart\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"all cardiac tissues, including the conducting tissues and the valves, were involved",
"mitral insufficiency",
"diffuse ballooning of the mitral valve with localized \"overshoot\"",
"valvular insufficiency",
"widespread involvement of the myocardium and conducting tissues",
"elelctrocardiographic changes ... | null | null | [
"enzyme deficiency"
] | [
"myocardial necrosis was not observed"
] |
fabry:809441 | Metabolism of neutral glycosphingolipids in plasma of a normal human and a patient with Fabry's disease. | [
"[6-2H2]Glucose was used as a tracer for a comparative study on the metabolism of the neutral glycosylceramides in plasma of a control subject and a patient with Fabry's disease. The incorporation of the tracer into the glucosyl and galactosyl moieties of the glycosphingolipids was measured by gas chromatography-ma... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">[\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 6-2H2]Glucose\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Fabry's disease",
"Fabry",
"Fabry",
"Fabry"
] | null | null | [
"with a 5-g priming dose and the remainder administered at a constant rate of 3 g/hour over a 10-hour period"
] | null | [
"the plasma glucose of",
"attained a concentration of about 30% [6,6-2H2]glucose which diminished",
"(0.4%)",
"0.7%",
"Turnover times for the glycosphingolipids of plasma",
"turnover rates were from 1 to 6 mumol/"
] | [
"was not significantly labeled"
] |
fabry:809752 | [Renal transplantation in patients suffering from Fabry's disease. Kidney transplantation from an heterozygote subject to a subject without Fabry's disease]. | [
"We report the case of a renal transplantation performed with the kidney of an asymptomatic female carrier of Fabry's disease. The recipient, her daughter, had normal alpha-galactosidase levels. Eight years after transplantation, the characteristic lesions of the glomerular epithelial cells, noted as early as 11 da... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n renal transplantation performed with the kidney\n <span style=\"font-size: 0.8em; ... | null | [
"heterozygotes"
] | [
"glomerular changes"
] | [
"renal transplantation performed with the kidney",
"transplantation",
"transplantation"
] | null | null | [
"asymptomatic",
"normal alpha-galactosidase levels",
"glomerular changes are not modified",
"normal enzymatic \"environment\""
] |
fabry:163304 | Case 11, Part 2. Angiokeratoma corporis diffusum (Fabry's disease). | [
"A case of Fabry's disease is reported. The patient had multiple supernumerary, impacted, and unerupted teeth and other developmental abnormalities of the facial skeleton. The patient tolerated surgical removal of impacted and unerupted teeth without complications. However, this did not relieve the facial pain. The... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Fabry's disease"
] | null | [
"multiple supernumerary, impacted, and unerupted teeth",
"developmental abnormalities of the facial skeleton",
"continued vascular and renal degeneration",
"death"
] | [
"surgical removal of impacted and unerupted teeth",
"renal transplantation"
] | null | null | [
"without complications",
"did not relieve the facial pain"
] |
fabry:803896 | [Angiokeratoma corporis diffusum (Fabry's disease). Biochemical diagnosis in plasma]. | [
"In a 35-year-old man with the full picture of Fabry's disease there was an almost fourfold increase of trihexosylceramide concentration in plasma and a decrease in the alpha-galactosidase activity to 13 percent as compared with the values from a control group. Using the same biochemical methods it could be shown t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 35-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Fabry's disease"
] | null | [
"attacks of pain",
"permanently improved"
] | [
"phenytoin and carbamazepin"
] | null | [
"almost fourfold increase of trihexosylceramide concentration in plasma",
"decrease in the alpha-galactosidase activity to 13 percent"
] | null |
fabry:52972 | On the diagnosis of Fabry's disease. | [
"Fabry's disease is a recessive X-linked inborn error of metabolism due to deficiency of the lysosomal enzyme alpha-galactosidase. The large variety of symptoms may make the diagnosis difficult. A severely afflicted female patient is presented. For several years she had been treated under the diagnosis polyarteriti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"polyarteritis nodosa"
] | [
"recessive X-linked inborn error of metabolism"
] | [
"characteristic cutaneous lesions of Fabry's disease"
] | [
"corticosteroid treatment",
"enzyme substitution therapy"
] | null | [
"deficiency of the lysosomal enzyme alpha-galactosidase"
] | null |
gaucher:35186390 | Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas. | [
"Gaucheromas, which are pseudotumors consisting of a cluster of Gaucher cells, are rare complications in Gaucher's disease (GD) and reported in patients treated with enzyme replacement therapy (ERT). Gaucheromas commonly develop in the lymph nodes in the mesenteric and mediastinal regions and can cause serious comp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucheromas\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Gaucher's disease (GD)",
"GD type 3",
"GD"
] | null | [
"showed a significant reduction in size"
] | [
"enzyme replacement therapy (ERT)",
"initiation of substrate reduction therapy (SRT) with eliglustat",
"Combination therapy with ERT and SRT"
] | null | [
"protein-losing enteropathy"
] | null |
gaucher:35139999 | Gaucher disease: A cause of massive splenomegaly in a 15-year-old black African male. | [
"Patients with Gaucher disease (GD), a rare autosomal recessive lysosomal storage disease, commonly present to paediatricians with massive splenomegaly. While the diagnosis and management of patients with this chronic multisystem disorder has evolved significantly in recent years, the initial diagnosis represents a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher disease (GD)",
"lysosomal storage disease",
"chronic multisystem disorder",
"GD"
] | [
"rare autosomal recessive",
"heterozygous mutations in the GBA1 gene"
] | [
"massive splenomegaly",
"abdominal distension",
"delayed growth",
"fatigue",
"enlarged liver of 173 mm",
"massive splenomegaly of 27 mm"
] | [
"dedicated paediatric haematology unit",
"enzyme replacement therapy"
] | [
"black African"
] | [
"severe anaemia (haemoglobin concentration 8 g/dL)",
"moderate thrombocytopenia (platelet count 80 × 109/L)",
"reduced beta-glucocerebrosidase activity"
] | null |
gaucher:34991910 | Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3. | [
"We report the case of a patient with progressive myoclon epilepsy due to Gaucher disease type 3 whose seizures and ability to perform activities of daily living were significantly improved after starting low-dose perampanel therapy.",
"Our patient's generalized tonic-clonic seizures and myoclonus did not improve... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the case of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n progressive myoclon epilepsy\n <span style=\"font-size: 0.8em; font-w... | [
"Gaucher disease type 3",
"progressive myoclon epilepsy",
"associated with Gaucher disease type 3"
] | null | [
"progressive myoclon epilepsy",
"seizures and ability to perform activities of daily living were significantly improved",
"generalized tonic-clonic seizures",
"myoclonus",
"myoclonus reduced",
"generalized tonic-clonic seizures continued to occur",
"generalized tonic-clonic seizures",
"decrease in myo... | [
"low-dose perampanel therapy",
"pharmacological chaperone therapy",
"treatment with 2 mg/day of perampanel",
"Perampanel"
] | null | null | [
"did not improve despite the administration of multiple antiseizure medications and enzyme replacement therapy"
] |
gaucher:34908889 | Novel Management and Screening Approaches for Haematological Complications of Gaucher's Disease. | [
"Gaucher disease (GD) is the most common lysosomal storage disorder. The principal manifestations for its diagnosis and further monitoring include haematological manifestations such as anaemia, thrombocytopaenia, spleen enlargement, and bleeding disorders, among others. This review aims to summarise and update the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disorder",
"GD",
"hematologic complication",
"GD type 1",
"GD",
"GD",
"hematologic neoplasia"
] | null | [
"haematological manifestations",
"spleen enlargement",
"bleeding disorders",
"haematological manifestations",
"splenomegaly",
"Long-term haematological complications",
"neoplasia",
"immune impairment"
] | [
"pregnancy",
"surgery"
] | null | [
"anaemia",
"thrombocytopaenia",
"haematological complications",
"thrombocytopaenia",
"cytopaenia",
"underlying coagulation disorders",
"platelet dysfunction",
"Normalization of hematological parameters"
] | null |
gaucher:34863216 | Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan. | [
"Gaucher disease (GD) is caused by reduced lysosomal enzyme β-glucocerebrosidase activity. Heterogeneous genotypes and phenotypes have been observed within GD types and across ethnicities. Enzyme replacement therapy is generally recommended for patients with type 1 GD, the least severe form of GD. In Japan, velaglu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"GD",
"type 1 GD",
"GD",
"type 1, 2 or 3 GD",
"type 1, 2, or 3 GD",
"types 2 and 3 GD",
"GD",
"type 2 GD",
"type 2 GD",
"types 1-3 GD"
] | null | [
"infusion-related reactions (IRRs)",
"adverse drug reactions (ADRs)",
"ADRs",
"ADRs",
"ADRs",
"ADRs",
"IRRs",
"vomiting (moderate severity)",
"serious adverse events",
"fatal events were considered to be unrelated to treatment with velaglucerase alfa"
] | [
"Enzyme replacement therapy",
"velaglucerase alfa",
"velaglucerase alfa 60 U/kg every 2 weeks via intravenous infusion",
"velaglucerase alfa",
"treatment discontinuation",
"administration of velaglucerase alfa",
"long-term treatment with velaglucerase alfa",
"NCT03625882"
] | [
"Japan",
"Japan",
"Japan",
"Japan"
] | [
"reduced lysosomal enzyme β-glucocerebrosidase activity",
"Platelet counts increased",
"and were generally maintained within the normal range over the administration period",
"neutralizing anti-velaglucerase alfa antibodies",
"increased platelet counts"
] | [
"No elderly patients experienced any ADR"
] |
gaucher:34805759 | Multiple de novo gene variations in a progeroid phenotype case report: haploinsufficiency mechanisms. | [
"We are presenting the case of a 6-year-old male patient with progeroid phenotype and severe developmental delay referred to Genetic clinic. Given the complex phenotype an extensive metabolic and genetic evaluation was performed including a whole exome sequencing analysis that showed genetic variants in TTR, RELN, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We are presenting the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 6-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | null | [
"genetic variants in TTR, RELN, MYH6, PHIP, and SYNE2 genes",
"combination of de novo gene variants",
"haploinsufficiency mechanisms",
"haploinsufficiency",
"loss of heterozygosity"
] | [
"progeroid phenotype",
"severe developmental delay",
"dysmorphism",
"plagiocephaly",
"low set and abnormally shaped ears",
"up slanted palpebral fissures",
"hypoplastic alae nasi",
"head circumference two standard deviations below the 3rd percentile (microcephaly)",
"wrinkled skin",
"broad forehea... | null | null | null | [
"no apparent phenotypical consequences"
] |
gaucher:34802413 | Ambroxol chaperone therapy for Gaucher disease type I-associated liver cirrhosis and portal hypertension: a case report. | [
"Gaucher disease (GD) is a rare autosomal recessive inherited disease caused by the deficiency of glucocerebrosidase and characterized by a broad spectrum of clinical manifestations, including hepatosplenomegaly, bone infiltration, and cytopenia. Moreover, it is even involved in the central nervous system. GD is cl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"GD",
"type 1 (GD1)",
"adult-onset, non-neuropathic variant",
"type 2 (GD2), the acute neuropathic form",
"type 3 (GD3)",
"severe chronic neuro-visceral form",
"GD",
"GD1-associated liver cirrhosis",
"GD1",
"cirrhosis",
"GD1"
] | [
"rare autosomal recessive inherited disease",
"two known pathogenic mutations on the glucocerebrosidase (GBA) gene"
] | [
"hepatosplenomegaly",
"bone infiltration",
"central nervous system",
"neurologic involvement",
"portal hypertension",
"esophageal varices lasting for one year",
"34-year history of liver and spleen enlargement",
"portal hypertension",
"decrease in liver stiffness (-19.5%) and portal vein diameter (-... | [
"ambroxol chaperone therapy",
"received 660 mg/d of ambroxol for up to two years",
"long-term treatment with high dose ambroxol"
] | null | [
"deficiency of glucocerebrosidase",
"cytopenia",
"remarkable increase in GBA activity (+35.5%)"
] | null |
gaucher:34785512 | Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease. | [
"Gaucher disease is an inborn error of metabolism resulting from the deficiency of the enzyme glucocerebrosidase and consequent accumulation of glucocerebroside within the lysosomes of macrophages. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease, and results ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"type 1 Gaucher disease",
"Gaucher disease",
"periodontal disease"
] | [
"inborn error of metabolism"
] | [
"enlarged liver and/or spleen",
"hepatosplenomegaly",
"bone abnormalities",
"multiple skeletal sites",
"bone involvement of long bones and vertebrae",
"jawbone involvement",
"dental pain",
"radiological features of jaw involvement"
] | [
"history of long-term use of bisphosphonates"
] | null | [
"deficiency of the enzyme glucocerebrosidase",
"pancytopenia"
] | null |
gaucher:34765393 | Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease. | [
"Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and lungs. We report a male patient with the chronic visceral sub... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acid sphingomyelinase deficiency (ASMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"lysosomal storage disease (LSD)",
"chronic visceral subtype",
"chronic visceral subtype",
"ASMD",
"Gaucher disease",
"Fabry disease"
] | null | [
"organ manifestations",
"limited to the spleen, liver, and lungs",
"renal insufficiency"
] | null | null | [
"Acid sphingomyelinase deficiency (ASMD)",
"deficient acid sphingomyelinase",
"proteinuria"
] | null |
gaucher:34720832 | A Japanese Patient with Gaucher Disease Treated with the Oral Drug Eliglustat as Substrate Reducing Therapy. | [
"Gaucher disease is a rare genetic disorder caused by the deficiency of acid β-glucosidase to effectively catalyze the degradation of glucosylceramide to glucose and ceramide. We report here the case of a 31-year-old male Japanese patient with Gaucher disease who switched from enzyme replacement therapy (ERT) to su... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"Gaucher disease",
"idiopathic liver disease",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"rare genetic disorders",
"Gaucher disease",
"Gaucher disease"
] | [
"rare genetic disorder"
] | [
"Liver dysfunction",
"splenomegaly",
"spleen size rapidly decreased"
] | [
"switched from enzyme replacement therapy (ERT) to substrate reducing therapy (SRT)",
"ERT treatment with imiglucerase for 5 years",
"visiting the hospital for 2 h of infusion ERT every 2 weeks",
"switch from ERT to SRT with an oral drug",
"treated with eliglustat for >2 years",
"SRT"
] | [
"Japanese",
"Japanese"
] | [
"deficiency of acid β-glucosidase",
"effectively catalyze the degradation of glucosylceramide to glucose and ceramide",
"thrombocytopenia",
"platelet count rapidly increased"
] | [
"no deterioration of laboratory data"
] |
gaucher:34668825 | Abdominal lymphadenopathy in children with Gaucher disease: Relation to disease severity and glucosylsphingosine. | [
"Few case reports and series reported abdominal lymphadenopathy (ALN) in people with Gaucher disease (GD). However, it's prevalence among Gaucher population, clinical implications and potential biomarkers are unknown. Hence this study aims to assess the prevalence of ALN among children with GD & to correlate it to ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Few case reports and series reported \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n abdominal lymphadenopathy (ALN)\n <span style=\"font-size: 0.8em; fon... | [
"abdominal lymphadenopathy (ALN)",
"Gaucher disease (GD)",
"Gaucher",
"ALN",
"GD",
"GD",
"type-1",
"type-3)",
"GD",
"ALN",
"GD",
"GD",
"ALN",
"ALN",
"ALN",
"ALN",
"GD morbidity",
"ALN",
"GD",
"GD",
"ALN",
"GD"
] | null | [
"pressure manifestations by ALN",
"diarrhea",
"constipation",
"abdominal pain",
"intestinal obstruction",
"significant lymphadenopathy",
"abdominal-pain",
"constipation",
"intestinal-obstruction",
"SSI",
"asymptomatic cases",
"intestinal obstruction"
] | [
"enzyme-replacement therapy (ERT)",
"history of splenectomy"
] | null | [
"neutrophil-lymphocytic-ratio (NLR), platelet-lymphocytic-ratio (PLR)",
"glucosylsphingosine (Lyso-GL1)",
"NLR, PLR and Lyso-GL1",
"higher NLR",
"decreased PLR",
"higher SSI",
", Lyso-GL1",
"and NLR",
"Lyso-GL1",
"NLR",
"SSI",
"NLR and Lyso-GL1",
"significantly higher NLR and lower PLR",
"... | null |
gaucher:34557364 | Gaucher's Disease in an Adult Female: A Rare Entity. | [
"Gaucher's disease is a rare inborn error of metabolism with an autosomal recessive pattern of inheritance. With over 26 million births occurring per annum, extrapolation of this figure would give us an estimated burden of 17,000 babies born with lysosomal storage disorder (LSD). Given the large population of India... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"rare inborn error of metabolism",
"lysosomal storage disorder (LSD)",
"LSD",
"type-1 Gaucher's disease",
"thalassemia",
"Gaucher's disease"
] | [
"autosomal recessive pattern of inheritance",
"consanguineous marriage"
] | [
"malaria",
"sickling",
"hepatomegaly",
"massive splenomegaly"
] | null | [
"India",
"Chhattisgarh",
"India"
] | [
"pancytopenia"
] | null |
gaucher:34527913 | Gaucher disease type 1: the first experience of enzyme replacement therapy in pediatric practice in Moldova - case report. | [
"We report on a case of a little girl patient diagnosed with Gaucher disease (GD) type 1 in her early childhood and our first experience with enzyme replacement therapy (ERT). She was first diagnosed accidentally with enlarged spleen during a pediatric examination when she was three years old, but the family ignore... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n little\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Gaucher disease (GD) type 1",
"GD"
] | [
"two found mutations in GBA gene"
] | [
"enlarged spleen",
"left abdominal flank pain",
"multiple bruising",
"general weakness",
"bone pain",
"low appetite",
"failure to thrive <5th percentile",
"minor hepato- and severe splenomegaly",
"enlarged submaxillary lymph nodes",
"initial spleen volume (1178.19 cm3) decreased by almost 60%",
... | [
"enzyme replacement therapy (ERT)",
"ERT",
"initiated with Imiglucerase (54 UI/kg/2 wks)",
"ERT start",
"20 months of applied therapy",
"three months of therapy",
"months of ERT",
"ERT with Imiglucerase",
"4-6 months of therapy",
"ERT"
] | null | [
"anemia",
"normal platelets",
"low activity of beta-Glucosidase",
"platelets showed the first a promising result",
"gradually increasing their number every 2 weeks",
"maintaining it in good parameters",
"hemoglobin level was appreciated within normal ranges",
"stabilized completely after 6 months",
... | [
"family ignored investigations",
"avoiding the splenectomy",
"no antibodies to Imiglucerase were found"
] |
gaucher:34454394 | Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness. | [
"Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid β-glucosidase encoded by the GBA gene. In patients with GD, childhood onset parkinsonian features have been rarely described.",
"Twin siblings with GD are described, including clinical follow-up and treatment... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disorder",
"GD",
"neuronopathic GD with an intermediate form between type 2 and 3",
"GD",
"lysosomal storage disorders",
"parkinsonism"
] | [
"autosomal recessive",
"missense mutation and a complex allele (NP_000148: p.[(Asp448His)]; [(Leu422Profs*4)]) in compound heterozygosity in GBA gene"
] | [
"splenomegaly",
"hypokinesia",
"bradykinesia",
"oculomotor apraxia",
"complete rigid hypokinetic syndrome",
"bradykinesia, tremor and rigidity",
"improvement in motor and non-motor skills",
"systemic and neurological phenotype",
"complex neurological picture",
"hypokinetic-rigid and tremor syndrom... | [
"Treatment with imiglucerase, miglustat, ambroxol and levodopa",
"Levodopa",
"levodopa treatment",
"levodopa trial"
] | null | [
"deficiency of acid β-glucosidase encoded by the GBA gene",
"thrombocytopenia",
"Glucocerebrosidase activity was 28% and 26%"
] | null |
gaucher:34449155 | A very rare cause of protein losing enteropathy: Gaucher disease. | [
"Mesenteric lymphadenopathy is a rare manifestation of Gaucher disease (GD) in children and can be accompanied by protein losing enteropathy (PLE). PLE is a difficult-to-treat complication of GD. To date, only a few pediatric GD cases with PLE and massive mesenteric lymphadenopathies have been reported.",
"Here, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mesenteric lymphadenopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Gaucher disease (GD)",
"PLE",
"GD",
"GD",
"chronic neuronopathic GD",
"PLE",
"GD",
"GD"
] | null | [
"Mesenteric lymphadenopathy",
"PLE",
"massive mesenteric lymphadenopathies",
"massive mesenteric lymphadenopathies",
"mesenteric lymphadenopathies",
"progressive abdominal distension",
"edema",
"ascites",
"diarrhea",
"mesenteric lymphadenopathies",
"relieve diarrhea",
"halt progression of mese... | [
"and 120 IU/kg/biweekly thereafter",
"early intervention with previously suggested surgical or medical treatment options",
"surgical and aggressive medical interventions in addition to ERT"
] | null | [
"protein losing enteropathy (PLE)",
"protein losing enteropathy"
] | [
"despite a regular and appropriate enzyme replacement therapy of 60 IU/kg/biweekly",
"despite long term use of high dose ERT"
] |
gaucher:34339539 | Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions. | [
"\"Blueberry muffin baby\" is an expression applied to newborns displaying a generalized purpuric rash caused by dermal erythropoiesis. This presentation is typically associated with TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpesvirus) complex infections. However, alternative diagnoses should be ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">"\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Blueberry muffin baby"\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"TORCH (toxoplasmosis, other, rubella, cytomegalovirus, and herpesvirus) complex infections",
"other infections",
"neoplastic diseases",
"metabolic diseases",
"perinatal-lethal-type Gaucher disease"
] | null | [
"Blueberry muffin baby\"",
"generalized purpuric rash caused by dermal erythropoiesis",
"congenital vascular lesions",
"cholestasis",
"hepatosplenomegaly",
"blueberry muffin-like skin lesions"
] | null | null | [
"persistent thrombocytopenia"
] | null |
gaucher:34336196 | An unusual case of T-cell acute lymphoblastic leukemia in a patient with BCR-ABL positive chronic myeloid leukemia and Gaucher disease. | [
"Chronic myelogenous leukemia (CML) is a chronic myeloproliferative disease characterized by a massive overproduction of myeloid cells. It is associated with the Philadelphia chromosome [Ph1, t (9; 22) (q34; q11)] or BCR-ABL fusion gene. CML usually undergoes a triphasic clinical course ending in a blast crisis, an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Chronic myelogenous leukemia (CML)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Chronic myelogenous leukemia (CML)",
"chronic myeloproliferative disease",
"CML",
"triphasic",
"blast crisis",
"CML",
"leukemias",
"transformation of CML into T-cell acute lymphoblastic leukemia (T-ALL)",
"Ph1 CML of eight years",
"T-ALL",
"T-cell acute lymphoblastic leukemia (T-ALL)",
"Blast... | [
"Philadelphia chromosome [Ph1, t (9; 22) (q34; q11)] or BCR-ABL fusion gene"
] | [
"lymphadenopathy",
"restore the chronic phase"
] | [
"packed RBC transfusion"
] | null | [
"severe anemia",
"neutropenia",
"thrombocytopenia",
"monocytes and basophils percentage were high"
] | [
"negative for CD20, CD56 and pan-CK"
] |
gaucher:34278762 | [Perinatal lethal Gaucher disease. Case report]. | [
"The paper describes a case of a perinatal lethal Gaucher disease in a 29-week-old fetus with non-immune hydrops, facial dysmorphia, hepatosplenomegaly, and hypoplasia of cerebellum and pons. Gaucher cells were found in the lymph nodes, spleen, lungs, thymus, cerebellum, and bone marrow. No storage cells have been ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The paper describes a case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n perinatal lethal Gaucher disease\n <span style=\"font-size: 0.8em; font-we... | [
"perinatal lethal Gaucher disease",
"Gaucher disease"
] | [
"presence of two mutations of the GBA gene"
] | [
"non-immune hydrops",
"facial dysmorphia",
"hepatosplenomegaly",
"hypoplasia of cerebellum and pons",
"significant placental weight increase",
"swelling",
"characteristic histologic signs of disease"
] | null | null | [
"deficiency of glucocerebrosidase activity",
"sharply increased hexanoylsphingosine concentration"
] | [
"No storage cells have been detected in the placenta"
] |
gaucher:34275320 | Case report: Gaucher disease in trepanobiopsy of 16yo woman examined for suspected myelodysplastic syndrome. | [
"Gaucher disease is an autosomal recessive disease belonging to the so-called storage diseases. More than 300 mutations of the GBA1 gene encoding the β-glucocerebrosidase enzyme are known. It is a very rare disease in the Czech Republic. Currently 35 patients are treated. In our case report, we present the case of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"storage diseases",
"myelodysplastic syndrome",
"Gauchers disease",
"Gaucher disease",
"progressive disease"
] | [
"autosomal recessive disease",
"mutations of the GBA1 gene encoding the β-glucocerebrosidase enzyme"
] | [
"splenomegaly"
] | null | [
"Czech Republic",
"Ostrava"
] | [
"prolonged thrombocytopenia",
"β-glucocerebrosidase enzyme decrease of activity"
] | [
"not been further investigated",
"individual bloodline did not show dysplastic features",
"number of blasts was not increased"
] |
gaucher:34213482 | Restrictive cardiomyopathy: A rare presentation of gaucher disease. | [
"Restrictive cardiomyopathy is an unusual form of cardiomyopathy accounting only for 2%-5% of all pediatric cardiomyopathies. It is mostly idiopathic. Gaucher disease in association with restrictive cardiomyopathy is extremely rare. We herein report a case of cardiac failure in an 8-year-old male child caused by re... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Restrictive cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Restrictive cardiomyopathy",
"cardiomyopathy",
"cardiomyopathies",
"idiopathic",
"Gaucher disease",
"restrictive cardiomyopathy",
"restrictive cardiomyopathy",
"Gaucher disease",
"restrictive cardiomyopathy",
"Gaucher disease"
] | null | [
"cardiac failure"
] | null | null | null | null |
gaucher:34045195 | Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease. | [
"Diagnosis of rare disorders requires heightened clinical acumen. When such disorders present with atypical or novel features, it adds to the diagnostic challenge. A 9-month-old female infant who had received a diagnosis of neonatal hepatitis due to cytomegalovirus infection at 2 months of age presented to our inst... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rare disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"rare disorders",
"neonatal hepatitis due to cytomegalovirus infection",
"type 4 Farber disease",
"Farber disease",
"Farber disease type 7)",
"Farber disease"
] | [
"two homozygous missense variants in ASAH1 gene"
] | [
"developmental delay",
"fever",
"vomiting",
"feeding difficulty",
"breathlessness",
"features of elevated intracranial pressure due to hydrocephalus",
"cholestatic jaundice",
"hydrocephalus",
"hypertension",
"bilateral pinguecula",
"Erlenmeyer flask deformity of the femur",
"few features (ping... | null | null | [
"prosaposin deficiency"
] | null |
gaucher:34031990 | Elevated holo-transcobalamin in Gaucher disease type II: A case report. | [
"Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of β-glucocerebrosidase. Based on the presence and severity of neurological complications, GD is classified into types I, II (the most severe form), and III. Abnormalities in systemic markers of vitamin B12 (B12) metabolism h... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal disorders",
"GD",
"types I, II",
"III",
"GD type I",
"GD type II",
"GD type I",
"liver diseases",
"GD",
"neuronopathic) GD",
"GD type II"
] | null | [
"neurological complications",
"jaundice",
"hepatosplenomegaly",
"ichthyosis",
"cholestasis",
"ascites",
"systemic inflammatory reaction"
] | null | null | [
"deficiency of β-glucocerebrosidase",
"Abnormalities in systemic markers of vitamin B12 (B12) metabolism",
"B12 deficiency",
"abnormal liver function enzymes",
"prolonged prothrombin time",
"high levels of B12",
"elevated B12 and holo-transcobalamin (holo-TC) levels",
"B12 profile",
"Holo-TC may inc... | null |
gaucher:33836415 | Early initiation of ambroxol treatment diminishes neurological manifestations of type 3 Gaucher disease: A long-term outcome of two siblings. | [
"Gaucher disease type 3 (GD3) is a severely debilitating disorder characterized by multisystemic manifestations and neurodegeneration. Enzyme replacement therapy alleviates visceral signs and symptoms but has no effect on neurological features. Ambroxol has been suggested as an enzyme enhancement agent. Some studie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease type 3 (GD3)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Gaucher disease type 3 (GD3)",
"severely debilitating disorder",
"neuronopathic Gaucher disease",
"GD3",
"GD3"
] | [
"L444P/H225Q;D409H glucocerebrosidase activity"
] | [
"multisystemic manifestations",
"neurodegeneration",
"alleviates visceral signs and symptoms",
"progression of neurological manifestations",
"significant neurological involvement",
"relatively rapid improvement",
"stabilization of further course",
"attention deficit",
"low average cognitive function... | [
"Enzyme replacement therapy",
"Ambroxol",
"enzyme enhancement agent",
"ambroxol combined with enzyme replacement therapy",
"ambroxol",
"ambroxol treatment",
"treatment was started at seven weeks",
"ambroxol",
"early initiation of ambroxol treatment"
] | null | [
"enzyme enhancement"
] | [
"no effect on neurological features",
"did not manifest other neurological symptoms"
] |
gaucher:33661172 | Successful Treatment of Gaucher Disease With Matched Sibling Hematopoietic Stem Cell Transplantation: A Case Report and Literature Review. | [
"Gaucher disease (GD) is the most common lysosomal storage disease and requires long-term enzyme replacement therapy (ERT), which is costly and inconvenient for resource-limited countries such as Thailand. The authors present the case of a 1-year-old boy who was diagnosed with GD type 1 with a homozygous mutation a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disease",
"GD type 1",
"of GD"
] | [
"homozygous mutation at c.1448 T>C (L444P)"
] | [
"full engraftment"
] | [
"long-term enzyme replacement therapy (ERT)",
"ERT",
"matched sibling hematopoietic stem cell transplantation (HSCT) was performed 6 months after the ERT was initiated",
"HSCT",
"disease remission",
"HSCT",
"long-term remission"
] | [
"Thailand"
] | [
"Lyso-GL1 levels were also at an acceptable level"
] | null |
gaucher:33614410 | The role of glucosylsphingosine as an early indicator of disease progression in early symptomatic type 1 Gaucher disease. | [
"Gaucher disease (GD), a lysosomal storage disorder caused by β-glucocerebrosidase deficiency, results in the accumulation of glucosylceramide and glucosylsphingosine. Glucosylsphingosine has emerged as a sensitive and specific biomarker for GD and treatment response. However, limited information exists on its role... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disorder",
"GD",
"GD1"
] | null | null | null | null | [
"β-glucocerebrosidase deficiency",
"Glucosylsphingosine"
] | null |
gaucher:33603854 | Successful treatment of Gaucher disease type 1 by enzyme replacement therapy over a 10-year duration in a Japanese pediatric patient: A case report. | [
"The prevalence of Gaucher disease (GD) in Japan is much lower than that in Western countries; therefore, data on Japanese pediatric patients with GD type 1 are currently limited. The present study reports on the case of a Japanese pediatric patient with GD type 1 who was diagnosed when she presented with hepatospl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The prevalence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Gaucher disease (GD)",
"GD type 1",
"GD type 1",
"GD",
"GD",
"GD"
] | [
"compound heterozygote mutation of F213I (c.754T>A) on exon 7 and L444P (c.1448T>C) on exon 11"
] | [
"hepatosplenomegaly",
"huge hepatosplenomegaly",
"Erlenmeyer flask deformity",
"high-intensity area within the diaphysis region",
"decrease in the size of the liver and spleen, which normalized",
"no improvement in the high-intensity area within the diaphysis region for 10 years"
] | [
"Enzyme replacement therapy (ERT) along with an intravenous infusion of 60 U/kg of imiglucerase every other week",
"of ERT"
] | [
"Japan",
"Japanese",
"Japanese"
] | [
"thrombocytopenia",
"slight anemia",
"high levels of acid phosphatase (ACP) and angiotensin-converting enzyme (ACE)",
"enzymatic activity of leukocyte β-glucosidase",
", had decreased to 186.7 nmol/h/mg (reference range, 1,424.0-2,338.0 nmol/h/mg)",
"Hemoglobin levels and the platelet count gradually impr... | null |
gaucher:33583590 | Gaucher disease type 1: Unexpected diagnosis in a 75-year old patient presenting with splenomegaly. | [
"We present a 75-year old Korean female patient harboring novel hemizygous variant mutation in glucosidase beta acid (GBA) gene, who was diagnosed with splenic marginal zone cell lymphoma and Gaucher disease (GD) concurrently. Our case is significant in that (1) it delivers the message that GD can occur at any age ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 75-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"splenic marginal zone cell lymphoma",
"Gaucher disease (GD)",
"GD"
] | [
"novel hemizygous variant mutation in glucosidase beta acid (GBA) gene",
"novel variant of pathogenic GBA mutation",
"hemizygous mutation"
] | null | null | [
"Korean"
] | null | null |
gaucher:33441516 | [Successful treatment with enzyme replacement therapy for pelvic fragile fracture in an elderly case of type I Gaucher's disease]. | [
"A 76-year-old male with lower-limb weakness was admitted to our hospital where thrombocytopenia and anemia were noticed. CT showed massive splenomegaly and multiple nodules inside the spleen. Bone marrow examination showed an increase of macrophages with large cytoplasm. Suspected of splenic lymphoma, the patient ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 76-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"splenic lymphoma",
"Gaucher's disease (GD)",
"type I GD",
"Type I GD",
"GD"
] | [
"two missense variants, p.D448H (D409H), p.L483P (L444P)"
] | [
"lower-limb weakness",
"massive splenomegaly",
"right buttock pain",
"fragile right pubic and pelvic fracture",
"symptoms gradually improved",
"giant splenomegaly",
"bone lesions"
] | [
"splenectomy",
"splenectomy",
"injection of imiglucerase as enzyme replacement therapy (ERT)",
"administered bisphosphonate",
"ERT",
"substrate reduction therapy"
] | null | [
"thrombocytopenia",
"anemia",
"Leukocyte glucocerebrosidase (GBA) enzyme activity had decreased to 1.25 nmol/mg",
"thrombocytopenia and anemia also improved",
"angiotensin-converting enzyme levels decreased",
"thrombocytopenia"
] | [
"without surgical treatment"
] |
gaucher:33275748 | A patient with Gaucher disease and plasma cell dyscrasia: bidirectional impact. | [
"Patients with Gaucher disease (GD), a rare autosomal recessive glycosphingolipid storage disease, commonly present to hematologists with unexplained splenomegaly, thrombocytopenia, anemia, and bone symptoms. Patients with GD may develop other manifestations, such as autoimmune thrombocytopenia, monoclonal gammopat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher disease (GD)",
"glycosphingolipid storage disease",
"GD",
"autoimmune thrombocytopenia",
"monoclonal gammopathy",
"multiple myeloma",
"hematological malignancies",
"GD",
"GD",
"rare diseases",
"Gaucher disease"
] | [
"rare autosomal recessive"
] | [
"unexplained splenomegaly",
"bone symptoms",
"hematologic complications"
] | null | null | [
"thrombocytopenia",
"anemia"
] | [
"poor responders to GD-specific therapy"
] |
gaucher:33043079 | Parkinsonism in Patients with Neuronopathic (Type 3) Gaucher Disease: A Case Series. | [
"The link between Parkinson's disease (PD), the second most common neurodegenerative disorder, and nonneuronopathic Gaucher disease (GD) is well established. Currently, PD is primarily associated with nonneuronopathic GD; however, with currently available treatments, patients with chronic neuronopathic GD, who hist... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The link between \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Parkinson's disease (PD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Parkinson's disease (PD)",
"neurodegenerative disorder",
"nonneuronopathic Gaucher disease (GD)",
"PD",
"nonneuronopathic GD",
"chronic neuronopathic GD",
"chronic neuronopathic GD",
"GD",
"parkinsonism",
"PD",
"nonneuronopathic GD",
"chronic neuronopathic GD",
"parkinsonism"
] | null | [
"parkinsonian features",
"unilateral bradykinesia and/or tremor",
"cognitive impairment",
"neurological manifestations"
] | null | null | null | [
"not shown cognitive decline 6 years after PD onset"
] |
gaucher:33017378 | Vitreous Hemorrhage in Type 3 Gaucher Disease: An Angiographic and Pathologic Analysis. | [
"To describe the case of a 12-year-old female with vitreoretinal manifestations of Type 3 Gaucher disease.",
"Retrospective case report including multimodal imaging and histologic examination of the vitreous.",
"A 12-year-old female with a history of Gaucher disease Type 3 was referred to the ophthalmology serv... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 12-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Type 3 Gaucher disease",
"Gaucher disease Type 3",
"Gaucher disease",
"Type 3 Gaucher disease"
] | [
"rare metabolic condition",
"autosomal recessive"
] | [
"vitreoretinal manifestations",
"vitreous deposits in both eyes",
"white vitreous opacities in both eyes",
"areas of blockage associated with the deposits",
"focal areas of leakage",
"shadow artifact without intrinsic flow at these sites",
"right hemorrhagic posterior vitreous detachment",
"hemorrhagi... | [
"pars plana vitrectomy with scleral buckle"
] | null | [
"deficiency of glucocerebrosidase"
] | null |
gaucher:32985097 | Consequences of treatment for hemophagocytic lymphohistiocytosis in a patient with undiagnosed Gaucher disease Type 1. | [
"Gaucher disease, a lysosomal storage disorder and hemophagocytic lymphohistiocytosis (HLH), a disorder of the immune system, have several overlapping clinical features including cytopenias, elevated serum ferritin, and splenomegaly. Prior reports of acute infantile neuronopathic, Type 2 Gaucher disease manifesting... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disorder",
"hemophagocytic lymphohistiocytosis (HLH)",
"disorder of the immune system",
"acute infantile neuronopathic",
"Type 2 Gaucher disease",
"HLH",
"Type 1 Gaucher disease",
"Gaucher",
"HLH",
"Type 1 Gaucher disease"
] | null | [
"splenomegaly",
"signs of HLH",
"severe Gaucher acute pain crisis",
"extensive bony disease including avascular necrosis",
"recurrent infections"
] | [
"treated with a 10-day course of etoposide and a 5-day course alemtuzumab",
"HLH chemotherapy treatment",
"Prolonged immunosuppression",
"lengthy hospitalization",
"HLH-directed therapy"
] | null | [
"cytopenias",
"elevated serum ferritin"
] | [
"initially suspected of having HLH"
] |
gaucher:32977293 | Development of a human iPSC line (SMBCi004-A) from a patient with Gaucher disease. | [
"A human induced pluripotent stem cell (iPSC) line was generated from the urine cells of a 8-year-old female with Gaucher disease with the homozygous changes c.1448 T>C in the GBA gene. Reprogramming factors OCT4, SOX2, KLF4, and miR-302-367 were delivered using a non-integrative plasmid. Our iPSCs showed complete ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n human induced pluripotent stem cell (iPSC) line\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"Gaucher disease"
] | [
"homozygous changes c.1448 T>C in the GBA gene"
] | null | [
"Reprogramming factors OCT4, SOX2, KLF4, and miR-302-367"
] | null | null | [
"normal genetic stability"
] |
gaucher:32944102 | Symmetric, bilateral upper and lower extremity lucent lesions in a patient with Gaucher's disease on enzyme replacement therapy. | [
"We report a case of a 6-year old girl with known type 3 Gaucher's Disease on enzyme replacement therapy who developed bilateral, symmetric osteolytic lesions in her humeri and femurs. While this manifestation of Gaucher's disease has been previously documented, it is an exceedingly rare variation. We observe that ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 6-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"type 3 Gaucher's Disease",
"Gaucher's disease",
"Gaucher's"
] | [
"L444P/L444P genotype"
] | [
"bilateral, symmetric osteolytic lesions in her humeri and femurs"
] | [
"enzyme replacement therapy",
"enzyme replacement therapy"
] | null | null | null |
gaucher:32779865 | Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience. | [
"In GM1 gangliosidosis the lack of function of β-galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. In the type 2 form of the disease, early intervention would b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n GM1 gangliosidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"GM1 gangliosidosis",
"type 2 form of the disease",
"lysosomal storage disorders",
"Gaucher type 1",
"Niemann Pick Type C diseases",
"GM1 gangliosidosis",
"GM1 gangliosidosis type 2",
"metabolic diseases"
] | null | [
"severe disability",
"premature death",
"precocious complications",
"progressive neurological deterioration",
"stabilization and/or slowing down of the neurological progression"
] | [
"early intervention",
"Substrate reduction therapy with Miglustat, a N-alkylated sugar that inhibits the enzyme glucosylceramide synthase",
"Miglustat therapy",
"Miglustat administration"
] | [
"Italian"
] | [
"lack of function of β-galactosidase"
] | null |
gaucher:32685346 | An uncommon cause of early infantile liver disease and raised chitotriosidase. | [
"Our subject presented at 11 months of age, following a varicella zoster infection, with acute on chronic liver disease and was found to have raised serum chitotriosidase. White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosomal acid lipase deficiency were normal. Niemann Pick type C (NPC) disease wa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Our subject presented at \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 11 months of age\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"varicella zoster infection",
"acute on chronic liver disease",
"Niemann Pick type C (NPC) disease",
"varicella",
"glycogen storage disease (GSD) type IV",
"classic hepatic subtype of glycogen storage disorder type IV (GSD IV)",
"early-onset liver disease",
"GSD IV",
"hepatic subtype of GSD IV"
] | null | [
"passed away"
] | [
"liver transplantation",
"Liver transplantation"
] | null | [
"raised serum chitotriosidase",
"raised chitotriosidase",
"raised chito"
] | [
"White cell enzyme analysis for Gaucher, Niemann Pick A, B and lysosomal acid lipase deficiency were normal",
"was too unstable for an urgent liver transplantation"
] |
gaucher:32604108 | 99mTc-MDP Bone Scintigraphy in Gaucher Disease. | [
"In this case report, we present the bone scintigraphic findings of a 9-year-old boy with Gaucher disease who has a history of fractures to evaluate the extent of his osseous lesions. Gaucher disease is a genetic deficiency of lysosomal enzyme glucocerebrosidase, which results in the accumulation of glucocerebrosid... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In this case report, we present the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n bone scintigraphic findings\n <span style=\"font-size: 0.8em; font-wei... | [
"Gaucher disease",
"Gaucher disease",
"type 1 Gaucher disease"
] | [
"genetic deficiency of lysosomal enzyme glucocerebrosidase"
] | [
"history of fractures",
"osseous lesions",
"clinical or radiographic evidence of infiltrative bone disease",
"diffuse osteoporosis",
"ischemic necrosis",
"fractures"
] | null | null | null | null |
gaucher:32509532 | Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat. | [
"Gaucher disease (GD; OMIM 230800) is a lysosomal storage disorder caused by a deficiency in acid beta-glucosidase as a result of mutation in the GBA gene. Type 1 GD (GD1) is the most common form and its clinical manifestations include severe hematological, visceral and bone disease. The goal of disease-modifying t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Gaucher disease (GD",
")",
"lysosomal storage disorder",
"Type 1 GD (GD1)",
"GD1",
"GD1",
"GD1",
"GD"
] | [
"OMIM 230800",
"mutation in the GBA gene"
] | [
"severe hematological, visceral and bone disease",
"improve hematological and visceral aspects of the disease",
"bone disease",
"failure load",
"resistance to fracture",
"failure load improved in the patient's lower limb",
"failure load"
] | [
"disease-modifying treatments",
"enzyme replacement therapy (ERT)",
"substrate reduction therapy (SRT)",
"began ERT",
"Following over 20 years of treatment with ERT",
"switched to SRT",
"switched from ERT to SRT",
"switch from ERT to SRT therapy",
"switch from ERT to SRT"
] | null | [
"deficiency in acid beta-glucosidase"
] | null |
gaucher:32375665 | Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management. | [
"Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.",
"We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G > A]) in which both mutations that induce an early stop codon a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Niemann-Pick disease (NPD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Niemann-Pick disease (NPD)",
"NPD type B",
"NPD"
] | [
"rare autosomal recessive hereditary disease",
"unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G > A]) in which both mutations that induce an early stop codon are located before the second in-frame initiation codon",
"unique compound mutation in SMPD1 gene"
] | null | [
"Combined high doses of atorvastatin and ezetimibe",
"pharmacological management of the lipid profile"
] | null | [
"deficient activity of acid sphingomyelinase",
"altered lipid profile",
"severe hypercholesterolemia"
] | [
"was initially diagnosed of Gaucher Disease"
] |
gaucher:32324335 | Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review. | [
"We present a rare case of neonatal cholestasis in a female infant with Gaucher Disease (GD), who received liver transplantation. We review the relevant literature on similar disease presentations.",
"A chart review of the index case was performed. PubMed and Medline databases were searched to identify other case... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a rare case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neonatal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"cholestasis",
"Gaucher Disease (GD)",
"GD",
"GD",
"cholestasis",
"GD"
] | [
"two pathogenic mutations in GBA gene"
] | [
"icterus with hepatosplenomegaly",
"worsening of her liver failure",
"passed away",
"late onset of neurologic involvement",
"death",
"Neurological sequelae"
] | [
"received liver transplantation",
"underwent a left lateral segment liver transplant from a living donor",
"ERT",
"transplant",
"liver transplantation"
] | null | [
"conjugated hyperbilirubinemia",
"low glucocerebrosidase enzyme activity",
"improvement of her liver enzymes and coagulation"
] | [
"normal neurologic examination",
"Despite early initiation of ERT",
"despite early initiation of treatment"
] |
gaucher:32215803 | Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients. | [
"Evidence about the link between glucocerebrosidase (GCase) and parkinsonism is growing. Parkinsonism was described in adult type 1 Gaucher disease (GD); few case reports described it in type 3GD. To assess the presence of parkinsonian features in a cohort of Egyptian GD patients and correlate these findings to the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Evidence about the link between \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n glucocerebrosidase (GCase)\n <span style=\"font-size: 0.8em; font-weight: ... | [
"parkinsonism",
"Parkinsonism",
"type 1 Gaucher disease (GD)",
"type 3GD",
"GD",
"GD",
"GD",
"GD",
"type 3",
"GD",
"GD",
"GD type",
"GD",
"type 3GD",
"parkinsonism",
"parkinsonism",
"GD"
] | [
"L483P mutation",
"GD genotype"
] | [
"parkinsonian features",
"depressive symptoms",
"neurological symptoms",
"depressive symptoms",
"parkinsonian features",
"parkinsonian features",
"parkinsonian features",
"higher SSI",
"lower cognitive functions",
"more significant depressive symptoms",
"cognitive functions",
"parkinsonian fea... | [
"enzyme replacement therapy (ERT) with a dose of 60 U/kg/2 weeks",
"ERT"
] | [
"Egyptian"
] | [
"glucocerebrosidase (GCase)"
] | null |
gaucher:32199059 | Propionic acidemia: an extremely rare cause of hemophagocytic lymphohistiocytosis in an infant. | [
"Hemophagocytic lymphohystiocytosis (HLH) may be primary (inherited/familial) or secondary to infections, malignancies, rheumatologic disorders, immune deficiency syndromes and metabolic diseases. Cases including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, Gaucher disease, Pearson sy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hemophagocytic lymphohystiocytosis (HLH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Hemophagocytic lymphohystiocytosis (HLH)",
"infections",
"malignancies",
"rheumatologic disorders",
"immune deficiency syndromes",
"metabolic diseases",
"lysinuric protein intolerance",
"multiple sulfatase deficiency",
"galactosemia",
"Gaucher disease",
"Pearson syndrome",
"galactosialidosis"... | [
"inherited/familial)"
] | [
"lethargy",
"pallor",
"poor feeding",
"hepatosplenomegaly",
"fever"
] | [
"HLH-2004 treatment protocol"
] | null | [
"pancytopenia",
"hyperammonemia",
"elevated methyl citrate were detected",
"Propionic acidemia"
] | [
"primary HLH gene mutations were negative"
] |
gaucher:31994807 | Dual-action ambroxol in treatment of chronic pain in Gaucher Disease. | [
"A significant number of patients with Gaucher disease (GD) suffer from chronic or acute pain that reduces their quality of life. A mutation in lysosomal enzyme β-glucosidase (GCase) leads to an accumulation of glucocerebroside in the macrophage-lineage cells, causing the development of clinical symptoms. Novel stu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A significant number of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Gaucher disease (GD)",
"GD",
"type 3 GD",
"GD",
"GD"
] | [
"mutation in lysosomal enzyme β-glucosidase (GCase)",
"Nav 1.8 channel blocker in Aβ, Aδ and unmyelinated C fibres"
] | [
"chronic or acute pain",
"clinical symptoms",
"reduces the transmission of sensory stimuli from the primary afferent neurons to the dorsal spinal cord",
"permanent bone pain in the lumbar-sacral part of the spine for over a year",
"the intensity of pain diminished and subsided within the following months",
... | [
"ambroxol (trans-4-(2-amino-3,5-dibromobenzylamino)-cyclohexanol)",
"mucolytic drug",
"ambroxol",
"analgetically",
"broncholytic properties",
"ambroxol",
"enhances enzyme replacement therapy (ERT)",
"pain management",
", that is, paracetamol and tramadol",
"Ambroxol was introduced at a dose of 150... | null | null | [
"without any pathology evidenced in the undertaken, recommended diagnostic tests",
"pain was partly controlled with standard analgesics"
] |
gaucher:31943857 | A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease. | [
"Mutations in the GBA gene that encodes the lysosomal enzyme acid β-glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing mutations within or close to conserved consensus donor or acceptor splice sites have als... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mutations in the GBA gene that encodes the lysosomal enzyme acid β-glucocerebrosidase\n <span style=\"font... | [
"Gaucher disease (GD)",
"lysosomal storage disorder",
"type I GD",
"GD",
"GD"
] | [
"Mutations in the GBA gene that encodes the lysosomal enzyme acid β-glucocerebrosidase",
"missense/nonsense",
"splicing mutations within or close to conserved consensus donor or acceptor splice sites",
"nine common mutations",
"novel point mutation, g.12599C > A (c.999 + 242C > A), was detected deep in intr... | null | null | [
"Cypriot"
] | null | null |
gaucher:31916728 | Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease. | [
"Berberoğlu-Ateş B, Varan A, Demir H, Akyüz C, Yüce A. Coexistence or a related condition: an infant with retinoblastoma and Gaucher disease. Turk J Pediatr 2019; 61: 449-452. Gaucher disease (GD) is the most prevalant lysosomal lipid storage disease that results from loss of function of acid β-glucosidase due to m... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Berberoğlu-Ateş B, Varan A, Demir H, Akyüz C, Yüce A. Coexistence or a related condition: an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infant\n <spa... | [
"retinoblastoma",
"Gaucher disease",
"Gaucher disease (GD)",
"lysosomal lipid storage disease",
"GD",
"Retinoblastoma",
"malignant tumor of the developing retina",
"Retinoblastoma",
"GD",
"retinoblastoma",
"retinoblastoma",
"GD",
"GD and cancer",
"malignancies",
"GD"
] | [
"mutations in the glucocerebrosidase gene",
"cells that have cancer-predisposing variants in both copies of RB1"
] | [
"hepatosplenomegaly",
"various patterns of bone and lung involvement"
] | null | null | [
"loss of function of acid β-glucosidase",
"cytopenia"
] | null |
gaucher:31898869 | White vitreous opacities in five patients with Gaucher disease type 3. | [
"Fundal abnormalities, including preretinal and retinal changes, are a rare finding in patients with the autosomal recessive lysosomal storage disorder Gaucher disease, most often described in patients with the chronic neuronopathic form (type 3). We evaluated whether these ophthalmological findings correlated with... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fundal abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"lysosomal storage disorder Gaucher disease",
"chronic neuronopathic form (type 3)",
"type 3 Gaucher disease",
"type 3 Gaucher disease",
"Gaucher disease"
] | [
"autosomal recessive",
"genotype p.L483P/p.L483P (L444P/L444P)"
] | [
"Fundal abnormalities",
"preretinal and retinal changes",
"ophthalmological findings",
"white vitreous opacities",
"decreased visual acuity",
"\"floaters\" obstructing their vision",
"fluffy-appearing white opacities",
"significant neurological, oculomotor and bone involvement",
"preretinal findings... | [
"splenectomy",
"Enzyme replacement therapy with recombinant glucocerebrosidase"
] | null | null | [
"did not prevent the development or progression of these ocular opacities"
] |
gaucher:31844629 | A case of motor neuron involvement in Gaucher disease. | [
"Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive weakening of the limbs followed by upper motor neuron involvement. A... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"type 3 GD",
"definite Amyotrophic Lateral Sclerosis",
"concurrent Gaucher disease and the ALS phenotype"
] | [
"genetic disorder"
] | [
"progressive weakening of the limbs",
"upper motor neuron involvement"
] | null | null | null | null |
gaucher:31822786 | Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease. | [
"Gaucher disease (GD) is a lysosomal storage disease caused by the deficiency of glucocerebrosidase characterized by a broad spectrum of clinical manifestations including hepatosplenomegaly, bone infiltration, and cytopenia, and even central nervous system involvement. Bone manifestations are typical of the GD-I an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disease",
"GD-I"
] | [
"different misfolding-mutations in the GBA gene"
] | [
"hepatosplenomegaly",
"bone infiltration",
"central nervous system involvement",
"Bone manifestations",
"skeletal and hematological manifestations"
] | [
"mainstay therapy",
"Ambroxol (ABX), an approved cough-suppressant",
"enzyme-enhancement agent of the residual activity of glucocerebrosidase mutants",
"ABX"
] | null | [
"deficiency of glucocerebrosidase",
"cytopenia"
] | null |
gaucher:31799121 | Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1. | [
"Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia, thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenic variants in GBA1 which codes for glucocerebrosidase, an enzyme involved in the catabolic pathway of complex lip... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD) type 1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Gaucher disease (GD) type 1",
"lysosomal disease",
"osteonecrosis of the left femur"
] | [
"biallelic pathogenic variants in GBA1 which codes for glucocerebrosidase",
"compound heterozygotes for the p.Glu388Lys and the p.Ser405Asn variants in GBA1",
"combination of variants"
] | [
"hepatosplenomegaly",
"bone changes",
"chronic lumbar pain",
"mild splenomegaly",
"uncontrollable bleeding",
"bone pain with a high BMB score",
"mild splenomegaly",
"phenotype remarkable for severe bone disease"
] | [
"total hysterectomy"
] | null | [
"anemia",
"thrombocytopenia",
"slightly reduced platelets and normal hemoglobin values",
"high chitotriosidase activity",
"low glucocerebrosidase",
"normal hemoglobin",
"elevated chitotriosidase activity",
"low glucocerebrosidase activity"
] | [
"normal platelets count",
"no or mild hematological manifestations"
] |
gaucher:31705761 | Reduction of large soft-tissue Gaucheromas with substrate reduction therapy. | [
"Soft-tissue masses are rarely seen in Gaucher disease. We previously reported a case of a 30-year-old patient with Gaucher disease type 3, receiving β-glucocerebrosidase enzyme replacement therapy (ERT), who presented with slowly enlarging masses infiltrated with Gaucher cells along her back. Substrate reduction t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Soft-tissue masses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease",
"Gaucher disease type 3"
] | null | [
"Soft-tissue masses",
"slowly enlarging masses infiltrated with Gaucher cells along her back",
"significant reduction of the large masses"
] | [
"receiving β-glucocerebrosidase enzyme replacement therapy (ERT)",
"Substrate reduction therapy introduced in addition to ERT"
] | null | null | null |
gaucher:31696996 | Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. | [
"Hereditary spastic paraplegia (HSP) is a group of disorders with predominant symptoms of lower-extremity weakness and spasticity. Despite the delineation of numerous genetic causes of HSP, a significant portion of individuals with HSP remain molecularly undiagnosed. Through exome sequencing, we identified five unr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hereditary spastic paraplegia (HSP)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Hereditary spastic paraplegia (HSP)",
"HSP",
"HSP",
"childhood-onset nonsyndromic HSP"
] | [
"recurrent two-base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene",
"similar variant (c.475_476delTT, p.F159*)",
"to be de novo in two families and inherited from an affected parent in two other families",
"de novo c.426_427delGA variant",
"escape of nonsense-mediated decay of the UBAP1 mut... | [
"lower-extremity weakness",
"spasticity",
"progressive spastic gait",
"leg clonus",
"toe walking",
"dominant-negative effect on the normal function of the endosome-specific endosomal sorting complexes required for the transport-I complex"
] | null | null | [
"truncated proteins losing the capacity of binding to ubiquitinated proteins"
] | null |
gaucher:31653957 | Polyneuropathy in Gaucher disease type 1 and 3 - a descriptive case series. | [
"Polyneuropathy (PNP) has been reported to be a possible phenotypic feature in Gaucher disease type 1 (GD1), while less is known about PNP in type 3 (GD3). We performed a cross-sectional study, exploring PNP in a Swedish GD cohort. Clinical assessment and blood biochemistry were carried out in 8 patients with GD1 a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Polyneuropathy (PNP)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Polyneuropathy (PNP)",
"Gaucher disease type 1 (GD1)",
"PNP",
"type 3 (GD3)",
"PNP",
"GD",
"GD1",
"GD3",
"GD1",
"GD1",
"GD3",
"GD",
"SFN",
"GD1",
"GD3"
] | null | [
"symptoms or clinical findings indicative of PNP",
"subclinical small fiber neuropathy (SFN)",
"large fiber PNP"
] | null | [
"Swedish"
] | null | [
"neurophysiological evidence of small or large fiber PNP attributed to GD3",
"no",
"neuropathy rating scores",
"large fiber PNP",
"against clinically significant small or large fiber PNP"
] |
gaucher:31622574 | Synchronous multiple myeloma and Gaucher disease. | [
"Pseudo-Gaucher cells can be found in multiple hematologic malignancies, hemoglobinopathies, infections, and multiple storage disorders upon bone marrow aspirate and biopsy; however, Gaucher disease (GD) should be ruled out, particularly when the cytoplasmic inclusions cannot be adequately characterized. It is well... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pseudo-Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"multiple hematologic malignancies",
"hemoglobinopathies",
"infections",
"multiple storage disorders",
"Gaucher disease (GD)",
"GD",
"monoclonal gammopathies",
"monoclonal gammopathy of undetermined significance",
"multiple myeloma (MM)",
"concurrent GD and MM",
"GD",
"monoclonal gammopathies"... | null | null | [
"enzyme replacement therapy (ERT)",
"ERT",
"facilitate administration of anti-myeloma therapy",
"anti-myeloma therapy"
] | null | [
"improvement in polyclonal gammopathies",
"cytopenias"
] | null |
gaucher:31599267 | Huge Splenomegaly with Pancytopenia Due to Gaucher's Disease in a 22 Years Old Woman. | [
"Gaucher's disease is one of the important storage disorders. It belongs to the lysosomal storage disorders group. There is defective activity of an enzyme named β-glucosidase which ultimately renders the cell of macrophage lineage loaded with glucocerebrosides. There is multi-organ involvement that manifests as he... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"storage disorders",
"lysosomal storage disorders",
"Gaucher's disease",
"type 1 or non-neuropathic form Gauchers disease"
] | null | [
"multi-organ involvement",
"hepatosplenomegaly",
"skeletal disorders",
"neurological features",
"feeling of a lump in left upper abdomen",
"progressive generalized weakness",
"hepatosplenomegaly"
] | [
"Enzyme replacement"
] | null | [
"defective activity of an enzyme named β-glucosidase",
"variable cytopenias",
"serum β-glucosidase level is below 15% of mean normal activity",
"pancytopenia"
] | null |
gaucher:31534727 | A case of bony lytic lesions in a patient with Gaucher disease. | [
"Gaucher disease is a clinically heterogeneous disorder of glucocerebroside metabolism and may present incidentally late in life with unexplained thrombocytopenia, splenomegaly, or bony lesions. Clinicians should be aware that patients with Gaucher disease appear to have an increased risk for developing hematolymph... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"clinically heterogeneous disorder of glucocerebroside metabolism",
"Gaucher disease",
"hematolymphoid malignancies",
"monoclonal gammopathies",
"plasma cell myeloma"
] | null | [
"splenomegaly",
"bony lesions"
] | null | null | [
"unexplained thrombocytopenia"
] | null |
gaucher:31363476 | Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. | [
"The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of glucocerebroside in macrophage-monocyte system cells. The report targets clinical phenotypes of GD in order to ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The most common \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n lysosomal storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"lysosomal storage disorder",
"Gaucher disease (GD)",
"GD",
"GD",
"type 1 GD (GD1)",
"GD1"
] | [
"biallelic mutations in the GBA gene",
"GBA gene mutations",
"GBA gene mutation",
"homozygosity for the N370S mutation",
"N370S/55bp deletion, N370S/D409H",
"H255Q/N370S"
] | [
"splenomegaly",
"bone pain",
"hepatomegaly",
"abdominal pain",
"fatigue",
"Osteopenia",
"asymptomatic Erlenmeyer flask deformity of the distal femur"
] | [
"enzyme replacement therapy (ERT)",
"ERT"
] | [
"Montenegro",
"Montenegro"
] | [
"deficiency of lysosomal glucocerebrosidase (GBA)",
"thrombocytopenia",
"hematological and visceral parameters showed significant improvement"
] | [
"no significant progression in bone mineral density was noticed"
] |
gaucher:31341788 | Very rare condition of multiple Gaucheroma: A case report and review of the literature. | [
"This study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy(ERT) for 19 months and developed multiple Gaucheroma. The literature was reviewed.",
"The medical chart and literature were reviewed. A boy presented at the age of 15 months with anemia, thrombocytope... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This study presented a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 3 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher disease (GD)",
"GD",
"GD",
"Gaucheroma",
"GD",
"Gaucher",
"Gaucheroma",
"GD",
"Gaucheroma"
] | null | [
"hepatosplenomegaly",
"multiple masses"
] | [
"treated with enzyme replacement therapy(ERT) for 19 months",
"ERT",
"ERT treatment"
] | null | [
"anemia",
"thrombocytopenia"
] | [
"poor response to doubled ERT doses"
] |
gaucher:31334026 | Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease. | [
"Gaucher disease type 1 (GD1) is a lysosomal storage disease rarely resulting in end stage pulmonary hypertension (PH) and interstitial lung disease. There have only been two previous case reports of patients with GD1 receiving lung transplants.",
"We report a case of successful bilateral sequential lung transpla... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease type 1 (GD1)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Gaucher disease type 1 (GD1)",
"lysosomal storage disease",
"interstitial lung disease",
"GD1",
"end-stage GD1-related PH",
"GD1",
"GD1",
"Group 1 PH"
] | null | [
"end stage pulmonary hypertension (PH)",
"osteopenia",
"severe pulmonary arterial hypertensive changes",
"hemorrhagic shock",
"acute renal failure",
"severe PH",
"PH",
"pulmonary arterial hypertension"
] | [
"lung transplants",
"successful bilateral sequential lung transplantation",
"transplant",
"enzyme replacement therapy with imiglucerase",
"pulmonary vasodilator therapy with bosentan, sildenafil and epoprostenol",
"pre-transplant comorbidities of prior splenectomy",
"bilateral sequential lung transplant... | null | null | [
"no Gaucher cells",
"no pulmonary parenchymal disease"
] |
gaucher:31309038 | Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy. | [
"Advanced liver disease complicated by hepatopulmonary syndrome is a recognized complication of Gaucher disease. Macrophage-targeted, recombinant enzyme replacement therapy is effective in reversing clinical manifestations attributed to the accumulation of glycolipid-laden macrophages but it is not known whether ad... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Advanced liver disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Advanced liver disease",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"Hepatopulmonary Syndrome",
"Gaucher Disease"
] | null | [
"hepatopulmonary syndrome",
"massive hepatomegaly",
"life-threatening hepatopulmonary syndrome",
"dramatic reversal of hepatopulmonary syndrome and liver disease",
"life-threatening complications"
] | [
"Macrophage-targeted, recombinant enzyme replacement therapy",
"splenectomized",
"Imiglucerase enzyme replacement therapy",
"imiglucerase enzyme therapy",
"imiglucerase enzyme replacement therapy"
] | null | null | null |
gaucher:31213336 | [Gaucher Disease type 1 mimicking immune thrombocytopenia: Role of hyperferritinemia and hypergammaglobulinemia in the initial evaluation of an isolated thrombopenia]. | [
"Gaucher disease type 1 is a rare genetic disease. It can cause thrombocytopenia. Current guidelines do not support bone marrow examination in front of isolated thrombocytopenia if no evidence suggests malignant hemopathy. This strategy aiming at sparing unnecessary investigations makes such rare diseases more diff... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease type 1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher disease type 1",
"immune thrombocytopenia",
"Gaucher disease",
"Gaucher disease type 1",
"immune thrombocytopenia"
] | [
"rare genetic disease"
] | [
"mild splenomegaly"
] | null | null | [
"thrombocytopenia",
"isolated thrombocytopenia",
"hyperferritinemia",
"hypergammaglobulinemia",
"isolated thrombocytopenia",
"thrombocytopenia",
"unexplained hypergammaglobulinemia",
"hyperferritinemia"
] | [
"no evidence suggests malignant hemopathy"
] |
gaucher:31193028 | Very rare condition of multiple Gaucheroma: A case report and review of the literature. | [
"This study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy (ERT) for 19 months and then developed multiple Gaucheroma. Review of literature was performed simultaneously.",
"The medical chart and literature were reviewed. A boy presented at the age of 15 month... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This study presented a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 3 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher disease (GD)",
"GD",
"GD",
"Gaucheroma",
"GD",
"Gaucher",
"Gaucheroma",
"GD",
"Gaucheroma"
] | null | [
"hepatosplenomegaly",
"multiple masses",
"deteriorating change"
] | [
"treated with enzyme replacement therapy (ERT) for 19 months",
"ERT",
"regular treatment"
] | null | [
"anemia",
"thrombocytopenia"
] | [
"poor response to doubled ERT doses"
] |
gaucher:31192173 | A Neonatal Case With Perinatal Lethal Gaucher Disease Associated With Missense G234E and H413P Heterozygous Mutations. | [
"Perinatal lethal Gaucher disease (PLGD), a particular and serious form of type 2 Gaucher disease (GD), often causes lethality in utero or death within hours after birth. The typical clinical manifestations include non-immune hydrops fetalis (NIHF), premature birth, fetal growth restriction, fetal intrauterine deat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Perinatal lethal Gaucher disease (PLGD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Perinatal lethal Gaucher disease (PLGD)",
"type 2 Gaucher disease (GD)",
"GD",
"PLGD"
] | [
"presence of missense G234E and H413P heterozygous mutations in glucerebrosidase (GBA) exon 7 and 10"
] | [
"lethality",
"death",
"non-immune hydrops fetalis (NIHF)",
"premature birth",
"fetal growth restriction",
"fetal intrauterine death",
"neonatal distress",
"rapid death",
"intrauterine growth retardation",
"anasarca",
"facial dysmorphia",
"ichthyosis",
"respiratory distress",
"hepatosplenom... | null | null | [
"refractory thrombocytopenia",
"anemia",
"elevated levels of liver enzymes, bile acid and direct bilirubin",
"activity of β- glucocerebrosidase was 0 in the peripheral white blood cells"
] | null |
gaucher:31188768 | Gaucher Disease Involving Virchow's Lymph Node: a Case Report. | [
"Gaucher disease is a metabolic storage disorder caused by a mutation in the lysosomal enzyme B-glucocerebrosidase. This disease is usually manifested in new born infants, however, an exceptional case of this disease in adult has been recently reported. A 21-year-old Caucasian patient was diagnosed with Gaucher dis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"metabolic storage disorder",
"Gaucher disease",
"Gaucher disease"
] | [
"mutation in the lysosomal enzyme B-glucocerebrosidase"
] | [
"Virchow's lymphatic node enlargement",
"mild splenomegaly"
] | null | [
"Caucasian"
] | null | [
"not a classic sign of Gaucher disease"
] |
gaucher:31139477 | Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder. | [
"Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countries are expecte... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Lysosomal storage disorders (LSDs)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Lysosomal storage disorders (LSDs)",
"LSDs",
"Gaucher",
"Fabry",
"Niemann-Pick disease (NPD)",
"LSDs",
"NPD type A/B",
"NPD",
"NPD type C"
] | [
"consanguineous marriages",
"novel mutations, including a novel 4 bp insertion mutation (C>CCTGG) in exon 2 of the SMPD1 gene"
] | [
"hepatosplenomegaly"
] | null | [
"South East Asian"
] | [
"cytopenias"
] | null |
gaucher:31130326 | Gaucher disease type 3c: New patients with unique presentations and review of the literature. | [
"Gaucher disease (GD) is the most prevalent lysosomal disorder caused by GBA mutations and abnormal glucocerebrosidase function, leading to glucocerebrosideaccumulation mainly in the liver, spleen, bone marrow, lungs, and occasionally in the central nervous system. Gaucher disease type 3c (GD3c) is a rare subtype o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal disorder",
"Gaucher disease type 3c (GD3c)",
"subacute/chronic neuronopathic GD3",
"GD3c",
"GD3c",
"GD3c",
"fulminant coronary disease",
"GD3c",
"psychiatric behavioral disorder",
"GD3c",
"interstitial lung disease",
"GD3c",
"pulmonary fibrosis"
] | [
"GBA mutations",
"homozygosity for the GBA p.Asp448His (D409H) mutation"
] | [
"cardiovascular and neuro-ophthalmological findings",
"rare cardiovascular, pulmonary and psychiatric findings",
"atypical disease courses",
"cardiovascular calcifications",
"non-calcified lesions - fibrosis and atherosclerosis",
"Neurological findings",
"oculomotor apraxia",
"neurological findings"
] | null | null | [
"abnormal glucocerebrosidase function"
] | [
"without heart disease"
] |
gaucher:31090377 | Differential radiological diagnosis of tuberculous sacroiliitis and bone involvement in Gaucher disease: a clinical case. | [
"Differential diagnosis of bone involvement in patients with Gaucher disease can be challenging. Other diseases with similar radiological signs should be ruled out. Here we present a clinical case of tuberculous sacroiliitis in the patient with type I Gaucher disease. Advanced radiological methods of examination ar... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Differential diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher disease",
"tuberculous sacroiliitis",
"type I Gaucher disease",
"Gaucher disease",
"tuberculosis of bones and joints"
] | null | [
"bone involvement",
"radiological signs"
] | [
"comprehensive treatment"
] | null | null | null |
gaucher:31061751 | Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene. | [
"This is the first reported case of prosaposin (PSAP) mutation from India manifesting as an acute neuronal Gaucher disease-like condition. A 2-month-old male baby presented with encephalopathy, resistant tonic-clonic seizures, moderate hepatosplenomegaly, hypotonia, and cherry red spot in the retinae. The child had... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is the first reported case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n prosaposin (PSAP) mutation\n <span style=\"font-size: 0.8em; font-weigh... | [
"acute neuronal Gaucher disease-like condition",
"Gaucher disease",
"Gaucher disease"
] | [
"prosaposin (PSAP) mutation",
"homozygous stop codon mutation in the PSAP gene (c.G1228T, p.Glu410ter)"
] | [
"encephalopathy",
"resistant tonic-clonic seizures",
"moderate hepatosplenomegaly",
"hypotonia",
"cherry red spot in the retinae",
"succumbed",
"persistent respiratory distress",
"refractory seizures",
"cherry red spots"
] | null | [
"India"
] | [
"anemia",
"thrombocytopenia",
"elevated chitotriosidase",
"elevated chitotriosidase",
"specific activator deficiency such as saposin C and saposin D deficiency",
"partially deficient or near normal GBA activity"
] | [
"normal activity of acid sphingomyelinase",
"low normal activity of β-glucosidase 1 (β-glucocerebrosidase 1, GBA)"
] |
gaucher:31026225 | Two siblings with Gaucher type 3c: different clinical presentations. | [
"Background Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid β-glucosidase. GD type 3c is a rare group characterised by cardiovascular involvement, and homozygous D448H is the most frequent mutation. Case presentati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Background \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Gaucher disease (GD)",
"lysosomal storage disorder",
"GD type 3c",
"GD type 3c"
] | [
"autosomal recessive mutations in the glucocerebrosidase (GBA) gene",
"homozygous D448H is the most frequent mutation",
"homozygous D448H mutations"
] | [
"cardiovascular involvement",
"hepatosplenomegaly",
"liver insufficiency",
"cardiac involvement",
"liver involvement"
] | [
"liver was transplanted at the age of 6 months",
"from a related donor"
] | null | [
"acid β-glucosidase"
] | null |
gaucher:30906609 | A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma. | [
"We are reporting a case of a 30-year-old male with no past medical history who presented with new onset of renal failure, anemia, and splenomegaly and was diagnosed with multiple myeloma. Given the splenomegaly and the patient's Jewish heritage, blood tests were done and the patient was found to be a Gaucher disea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We are reporting a case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 30-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"multiple myeloma",
"Gaucher disease carrier",
"Gaucher disease",
"multiple myeloma",
"Gaucher disease",
"multiple myeloma"
] | null | [
"new onset of renal failure",
"splenomegaly",
"splenomegaly"
] | null | [
"Jewish heritage"
] | [
"anemia"
] | [
"with no past medical history"
] |
gaucher:30851181 | Liver damage in a patient with Gaucher's disease type 1 and alpha-1 antitrypsin deficiency: a potential epigenetic effect? | [
"Gaucher's disease and alpha-1 antitrypsin deficiency are genetic diseases that can cause different kinds of liver damage, but are rarely associated with cirrhosis. Here, we describe the case of a patient with both diseases who presented with cirrhosis, followed by liver failure and death. Although the interaction ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"cirrhosis",
"cirrhosis",
"aggressive liver disease"
] | [
"genetic diseases",
"epigenetic factor"
] | [
"liver damage",
"liver failure",
"death"
] | null | null | [
"alpha-1 antitrypsin deficiency"
] | null |
gaucher:30744043 | Splenic Artery Aneurysms, A Rare Complication of Type 1 Gaucher Disease: Report of Five Cases. | [
"Type 1 Gaucher disease is a rare genetic lysosomal disorder due to acid betaglucosidase deficiency. The main features are thrombocytopenia, anemia, hepatosplenomegaly and complex skeletal disease. Complications include pulmonary hypertension, cirrhosis and splenic infarction; comorbidities, such as autoimmune phen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type 1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Type 1 Gaucher disease",
"Parkinson disease",
"Gaucher disease",
"Gaucher disease type 1",
"type 1 Gaucher disease",
"Gaucher disease"
] | [
"rare genetic lysosomal disorder"
] | [
"hepatosplenomegaly",
"complex skeletal disease",
"pulmonary hypertension",
"cirrhosis",
"splenic infarction",
"autoimmune phenomena",
"Visceral aneurysms",
"splenic arterial aneurysm",
"giant splenic arterial aneurysm",
"Aneurysms of the splenic artery"
] | null | null | [
"acid betaglucosidase deficiency",
"thrombocytopenia",
"anemia"
] | null |
gaucher:30632081 | Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. | [
"Impairment of saposin B causes rare atypical metachromatic leukodystrophy (MLD). It is encoded (together with saposin A, C, and D) by the PSAP gene. Only ten pathogenic variants were described in the PSAP gene in MLD patients to date. We report on two novel variants in the PSAP gene - c.679_681delAAG in the saposi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Impairment of saposin B\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"MLD",
"MLD",
"atypical Gaucher disease",
"MLD",
"Krabbe disease"
] | [
"PSAP gene",
"PSAP gene",
"two novel variants in the PSAP gene - c.679_681delAAG in the saposin B encoding exon 6 and c.1268delT in the saposin D encoding exon 11",
"variants resulting in PSAP null allele",
"presence of two PSAP null alleles",
"PSAP mutations"
] | [
"rare atypical metachromatic leukodystrophy (MLD)"
] | null | null | [
"Impairment of saposin B",
"deficit of other saposins (A-D) or whole prosaposin",
"saposin A",
"saposin B",
"saposin C impairing mutations",
"prosaposin deficit"
] | null |
gaucher:30627514 | Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening. | [
"Gaucher disease (GD) is one of the commonest lysosomal storage diseases that is inherited in an autosomal recessive manner and affects 1 in 50,000 to 100,000 people in the general population. The frequency is much higher (1 in 500 to 1000) in people of Ashkenazi Jewish heritage due to a founder effect. GD is cause... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage diseases",
"GD",
"type 1",
"non-neuronopathic GD",
"Multi-generational disease",
"pregnancy"
] | [
"inherited in an autosomal recessive manner",
"founder effect",
"genetic alterations in the GBA gene"
] | [
"hepatosplenomegaly",
"lung disease",
"bone abnormalities"
] | null | [
"Ashkenazi Jewish heritage",
"Ashkenazi Jewish"
] | [
"decreased or absent activity of β-glucosidase",
"anaemia",
"thrombocytopenia"
] | [
"may remain asymptomatic",
"lifespan"
] |
gaucher:30574629 | Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report. | [
"Gaucher Disease arises due to a deficiency in the enzyme glucocerebrosidase and is the most common lysosomal storage disease. This enzyme deficiency leads to the accumulation of glucocerebroside within macrophages (Gaucher cells) and the resulting infiltration of these cells into organs can cause clinical symptoms... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher Disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher Disease",
"lysosomal storage disease",
"Gaucher Disease"
] | null | [
"clinical symptoms",
"neurological involvement",
"small bowel mucosa",
"mesenteric mass formation",
"uncommonly seen clinical symptoms",
"small bowel obstruction",
"lower gastrointestinal hemorrhage"
] | null | null | [
"deficiency in the enzyme glucocerebrosidase",
"enzyme deficiency"
] | null |
gaucher:30540732 | [Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case]. | [
"Gaucher disease is an autosomal recessive lysosomal storage disorder characterized by deficiency of beta-glucosidase that would lead to the accumulation of glucosylceramide mainly in cells of the mononuclear phagocytic system causing systemic effectations. We present a patient of twenty years who is suffering from... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disorder",
"Gaucher disease",
"orphan disease"
] | [
"autosomal recessive"
] | [
"systemic effectations",
"chronic pain in the left hypochondrium with episodes of bleeding for 3 years",
"sensation of thermal rise",
"jaundice",
"massive splenomegaly",
"Severe osteoporosis",
"presence of portal vein thrombosis with cavernomatous transformation",
"portal biliopathy simulating a klats... | [
"treatment with imiglucerase"
] | null | [
"deficiency of beta-glucosidase",
"pancytopenia"
] | [
"without neurological involvement"
] |
gaucher:30473482 | Coexistence of Gaucher Disease and severe congenital neutropenia. | [
"Gaucher Disease (GD) is the most common lysosomal storage disorder has traditionally been classified into three clinical phenotypes. Type 3 GD is characterized by neurological involvement but neurological symptoms generally appear later in life than in type 2 disease. Neutropenia is much rarer than other hematolog... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher Disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher Disease (GD)",
"lysosomal storage disorder",
"Type 3 GD",
"type 2 disease",
"GD",
"Severe congenital neutropenia (SCN)",
"SCN",
"combination of Gaucher Disease and Kostmann Syndrome",
"Kostmann Syndrome"
] | null | [
"neurological involvement",
"neurological symptoms",
"increased susceptibility to severe and recurrent infections",
"visceral involvement"
] | [
"enzyme replacement therapy",
"ERT",
"enzyme replacement therapy in bone marrow"
] | null | [
"Neutropenia",
"hematological manifestations",
"paucity of peripherally circulating neutrophils with arrest of neutrophil maturation at the promyelocyte stage",
"severe neutropenia"
] | [
"no severe infections"
] |
gaucher:30465391 | Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy. | [
"Gaucher's disease is the most common lysosomal storage disease which occurs due to a deficiency of the enzyme glucocerebrosidase. This enzyme deficiency leads to accumulation of glucocerebrosidase in the cells of macrophage-monocyte system. It is inherited as an autosomal recessive mutation and has three clinical ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"lysosomal storage disease",
"type 1 Gaucher's disease"
] | [
"inherited as an autosomal recessive mutation"
] | [
"hepatosplenomegaly",
"skeletal disorders",
"organ dysfunction",
"fever",
"progressive pallor",
"abdominal distention for 6 months"
] | [
"Intravenous replacement of the enzyme Imiglucerase (cerezyme)"
] | null | [
"deficiency of the enzyme glucocerebrosidase",
"enzyme deficiency",
"anaemia",
"low leukocyte glucocerebrosidase activity",
"raised plasma chitotriosidase"
] | null |
gaucher:30461613 | Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report. | [
"Gaucher disease (GD), characterized by glucosylceramide accumulation in the macrophage-monocyte system, is caused by glucosidase b acid (GBA) gene mutations which lead to the deficiency of lysosomal enzyme glucocerebrosidase. The mutation spectrum of GBA in Chinese patients is quite different from those seen in Je... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"GD",
"type 1 GD",
"type 1 GD",
"GD",
"GD"
] | [
"glucosidase b acid (GBA) gene mutations",
"mutation spectrum of GBA",
"3 mutations including R159W (c. 475 C > T), V1230G (c. 689T > G), and G241A (c. 721G > A)",
"3 mutations",
"mutations in GBA"
] | [
"intermittent abdominal distension",
"progressive decrease in strength",
"femoral head necrosis on the right feet"
] | [
"Enzyme replacement therapy (ERT) with velaglucerase α",
"ERT"
] | [
"Chinese",
"Jewish",
"non-Jewish Caucasian",
"Chinese",
"Chinese",
"Chinese",
"Chinese"
] | [
"deficiency of lysosomal enzyme glucocerebrosidase",
"panhematopenia",
"The platelet and hemoglobin levels were restored"
] | [
"without neurologic symptoms"
] |
gaucher:30456712 | Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. | [
"Gaucher disease (GD) is caused by a hereditary deficiency of glucocerebrosidase, resulting in accumulation of glucosylceramide and potentially manifesting as hepatosplenomegaly. We report the case of a 15-month-old boy with chronic neuronopathic GD. The patient had prolonged anemia despite continued iron supplemen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"chronic neuronopathic GD",
"type 1 GD",
"type 3 GD",
"GD"
] | [
"hereditary",
"homozygous L444P mutation of GBA"
] | [
"hepatosplenomegaly",
"hepatosplenomegaly",
"hepatosplenomegaly improved",
"mild impaired cognitive function",
"supranuclear gaze palsy",
"radiologic bone deformity",
"neurologic signs or symptoms",
"growth retardation"
] | [
"Enzyme replacement treatment (ERT) consisting of imiglucerase",
"ERT"
] | null | [
"deficiency of glucocerebrosidase",
"prolonged anemia",
"White blood count (WBC), hemoglobin (Hb), platelet count, and corrected reticulocyte count were 3,300 /µL, 8.7 g/dL, 90,000 /µL, and 0.55, respectively",
"microcytic hypochromic anemia",
"mildly elevated ferritin",
"Glucocerebrosidase activity in mo... | [
"despite continued iron supplementation for 3 months",
"anemia refractory to iron therapy"
] |
gaucher:30448006 | Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy. | [
"Avascular necrosis (AVN), one type of bone infarction, is a major irreversible complication of Gaucher disease (GD). In this report, two pediatric patients with GD type 3, homozygous for the L483P pathogenic variant (formerly L444P), developed AVN despite treatment on long-term, high-dose enzyme replacement therap... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Avascular necrosis (AVN)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Avascular necrosis (AVN)",
"Gaucher disease (GD)",
"GD type 3",
"AVN",
"AVN",
"neuronopathic GD"
] | [
"homozygous for the L483P pathogenic variant (formerly L444P)"
] | [
"bone infarction",
"neurological symptoms"
] | [
"ERT",
"11 years on high-dose ERT",
"ERT monotherapy"
] | null | null | [
"despite treatment on long-term, high-dose enzyme replacement therapy (ERT)",
"intact spleens",
"despite good compliance",
"normalized hematological findings and visceral symptoms",
"limitations of ERT"
] |
gaucher:30410382 | Aortic calcification in Gaucher disease: a case report. | [
"Gaucher disease is the most common sphingolipid storage disease and is present in all ethnic groups. Its symptoms span all systems including the cardiovascular system. The health care provider should be vigilant regarding this potentially fatal complication. Gaucher disease type IIIC has been linked to causing ocu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"sphingolipid storage disease",
"Gaucher disease type IIIC"
] | [
"D409H mutation"
] | [
"symptoms span all systems including the cardiovascular system",
"oculomotor apraxia",
"cardiac calcification",
"valvular and aortic calcification",
"died",
"cardiovascular complications"
] | null | [
"Saudi"
] | null | null |
gaucher:30382391 | Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. | [
"Patients with Gaucher Disease (GD) exhibit three phenotypes, including type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic).",
"Identifying which GBA changes represent benign polymorphisms and which may result in disease-causing mutations is essential for diagnosis and ge... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher Disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher Disease (GD)",
"type 1 (non-neuronopathic)",
"type 2 (acute neuronopathic)",
"type 3 (subacute neuronopathic)",
"type 3 GD",
"GD",
"type 3 GD",
"type 3 GD phenotype"
] | [
"GBA changes represent benign polymorphisms",
"result in disease-causing mutations",
"GBA polymorphic variants",
"novel c.363A > G (Gly82Gly) synonymous mutation",
"new Gly82Gly mutation causes skipping of GBA exon 4, leading to a severe reduction of the wild type GBA mRNA",
"synonymous change",
"loss o... | [
"progressive myoclonus epilepsy"
] | null | null | null | [
"drug-resistant epilepsy"
] |
gaucher:30364808 | Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum. | [
"Gaucher disease (GD) is an autosomal recessive condition that results from a deficiency of the enzyme β-glucocerebrosidase. The increased risk of primary parkinsonism symptoms among individuals affected with GD and carriers for the disorder is well-documented in the literature. However, these risks and case report... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"GD",
"GD type 1",
"corticobasal syndrome (CBS)",
"atypical parkinsonism diagnosis",
"atypical parkinsonism",
"CBS",
"PD",
"GD type 1",
"GD type 1"
] | [
"autosomal recessive"
] | [
"primary parkinsonism symptoms",
"classical Parkinson's disease (PD) symptoms",
"cognitive and motor changes",
"early symptoms indicative of neurological involvement"
] | null | null | [
"deficiency of the enzyme β-glucocerebrosidase"
] | null |
gaucher:30342532 | Fever, pulmonary interstitial fibrosis, and hepatomegaly in a 15-year-old boy with Gaucher disease: a case report. | [
"Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase. Intravenously administered enzyme replacement therapy is the first-line therapy for Gaucher disease type 1 and ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"Gaucher disease type 1",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | [
"autosomal recessive disorder"
] | [
"fever",
"edema",
"gradually increasing abdominal girth",
"hypoevolutism",
"hepatomegaly",
"infection",
"unexplained symptoms of multiple systems"
] | [
"Intravenously administered enzyme replacement therapy",
"substrate reduction therapy",
"alternative oral treatment",
"splenectomy",
"receiving anti-infection, diuresis, blood transfusion, and hepatoprotection"
] | [
"South China",
"Han Chinese"
] | [
"deficiency in lysosomal glucocerebrosidase",
"moderate anemia"
] | [
"enzyme replacement therapy was not adopted"
] |
gaucher:30328501 | Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease. | [
"Gaucher disease (GD) represents the most common lysosomal storage defect. It is classified into three phenotypes: type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute/chronic neuronopathic. Although children affected by GD may present with a broad spectrum of neurological signs, brain magnetic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage defect",
"type 1 non-neuronopathic",
"type 2 acute neuronopathic",
"type 3 subacute/chronic neuronopathic",
"GD",
"GD"
] | null | [
"broad spectrum of neurological signs",
"previously undescribed brain MRI changes mainly affecting the thalami and/or the dentate nuclei",
"brain MRI abnormalities",
"neurological symptoms"
] | null | null | null | [
"brain magnetic resonance imaging (MRI) findings are usually normal or non-specific"
] |
gaucher:30126557 | Enzyme Replacement Therapy in a Gaucher Family. | [
"Gaucher disease is a lipid storage disorder due to deficiency of beta glucocerebrosidase. It's an autosomal recessive disease and as a result of this enzyme deficiency, glucocerebroside accumulates in various types of tissues like liver, brain spleen and bone marrow. We aimed to describe the effects of enzyme repl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lipid storage disorder",
"Gaucher disease",
"Gaucher disease"
] | [
"autosomal recessive disease"
] | null | [
"enzyme replacement therapy"
] | null | [
"deficiency of beta glucocerebrosidase",
"enzyme deficiency"
] | null |
gaucher:30094495 | Cauda equina syndrome in a patient diagnosed with type 1 Gaucher disease: a rare case. | [
"Gaucher disease is a rare hereditary glycolipid storage disease. One of the rare complications is neurodeficits due to vertebral involvement.",
"An 18-year-old female patient presented to the outpatient clinic with cauda equina syndrome due to sacral involvement of type 1 GD. Bilateral laminectomy via posterior ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"glycolipid storage disease",
"cauda equina syndrome",
"type 1 GD"
] | [
"rare hereditary"
] | [
"neurodeficits due to vertebral involvement",
"sacral involvement",
"long-term vertebral stability",
"improvement in neurodeficits"
] | [
"Bilateral laminectomy via posterior approach without posterior stabilization",
"Maximum excision of the mass avoiding destabilization of the spinal column"
] | null | null | null |
gaucher:30080752 | Eltrombopag for Delayed Platelet Recovery and Secondary Thrombocytopenia Following Allogeneic Stem Cell Transplantation in Children. | [
"The delay in platelet recovery after hematopoietic stem cell transplantation (HSCT) is closely related to the overall survival rate of transplanted children. The use of platelet-producing agents such as eltrombopag and romiplostim has made great progress in treating diseases such as immune thrombocytopenia and apl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The delay in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n platelet recovery\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"immune thrombocytopenia",
"aplastic anemia"
] | null | [
"primary platelet engraftment failure"
] | [
"hematopoietic stem cell transplantation (HSCT)",
"platelet-producing agents such as eltrombopag and romiplostim",
"transplantation",
"eltrombopag treatment",
"allogeneic HSCT",
"eltrombopag treatment and subsequent withdrawal of eltrombopag",
"eltrombopag treatment",
"allogeneic HSCT"
] | null | [
"platelet recovery",
"thrombocytopenia",
"secondary thrombocytopenia",
"platelets stabilized at ≥50×10/L",
"thrombocytopenia"
] | [
"no clear adverse reactions"
] |
gaucher:29983806 | A Saudi Infant with Vici Syndrome: Case Report and Literature Review. | [
"Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and catar... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Vici syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Vici syndrome",
"Vici syndrome",
"Vici syndrome",
"Vici syndrome",
"Vici syndrome"
] | [
"rare autosomal recessive disorder",
"Mutations in the gene epg5",
"c.3693G>Ap (Gln1231Gln) mutation in the gene EPG5"
] | [
"agenesis of the corpus callosum",
"hypopigmentation",
"cardiomyopathy",
"progressive failure to thrive",
"dysmorphic features",
"immunodeficiency",
"cataracts",
"recurrent chest infection",
"agenesis of the corpus callosum",
"cataracts",
"psychomotor delay",
"immunodeficiency",
"hypopigment... | [
"many hospital admissions",
"admitted to the pediatric intensive care unit"
] | null | null | [
"initial echocardiogram was normal"
] |
gaucher:29979419 | A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. | [
"Gaucher disease (GD) is an autosomal recessive disorder that leads to multiorgan complications caused by β-glucocerebrosidase deficiency due to mutations in the β-glucocerebrosidase-encoding gene (GBA). GD morbidity in Japan is quite rare and clinical phenotype and gene mutation patterns of patients with GD in Jap... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"GD",
"GD",
"GD",
"types 2 or 3 GD",
"GD",
"GD",
"gastric cancer",
"lysosomal disease",
"type 1 GD",
"type 1 GD",
"GD",
"GD"
] | [
"autosomal recessive disorder",
"mutations in the β-glucocerebrosidase-encoding gene (GBA)",
"gene mutation patterns",
"novel mutation in GBA"
] | [
"multiorgan complications",
"neurologic manifestations"
] | [
"Enzyme replacement therapy (ERT) with velaglucerase α",
"ERT",
"treatment with velaglucerase α"
] | [
"Japan",
"Japan",
"Japanese",
"Japan",
"Japanese",
"Japan"
] | [
"β-glucocerebrosidase deficiency",
"mild anemia",
"thrombocytopenia",
"serum β-glucocerebrosidase activity test found decreased",
"β-glucocerebrosidase activity as well as hemoglobin and platelet levels were restored"
] | [
"without neurologic symptoms",
"without any side effects"
] |
gaucher:29945135 | Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? | [
"Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.",
"We report here the case of a young woman with hepatosplenomegaly, leukopenia, and thrombocytopenia. Based on bone ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"primary myelofibrosis (PMF)",
"PMF",
"GD",
"PMF combined with GD"
] | [
"N370S/complex I mutations"
] | [
"hepatosplenomegaly",
"marrow fibrosis",
"hepatosplenomegaly",
"clinical and hematological improvements",
"persistent organomegaly",
"splenomegaly persisted",
"hepatosplenomegaly"
] | [
"Enzyme replacement therapy with imiglucerase"
] | null | [
"cytopenia",
"leukopenia",
"thrombocytopenia",
"Low glucocerebrosidase",
"high chitotriosidase levels",
"cytopenia"
] | [
"misdiagnosis",
"refused stem cell transplantation from an HLA-identical sibling",
"Low-dose melphalan was given, without any improvement",
"JAK2V617F, JAK2 exon 12, MPL, calreticulin, and exon 9 mutations were negative",
"no marrow fibrosis",
"PMF was excluded",
"the peripheral cell count and liver siz... |
gaucher:29854527 | Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia. | [
"A 35-year-old woman presented at 27-week gestation with hypertension and pedal edema. Antenatal scan showed hydrops fetalis and growth restriction. Cordocentesis showed severe fetal anemia. This was treated with multiple in utero blood transfusions with no clinically significant improvement and intrauterine death ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 35-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hydrops fetalis",
"severe hydrops",
"severe form of Gaucher disease",
"hydrops fetalis"
] | [
"homozygosity for the RecNcil mutation in the GBA gene"
] | [
"27-week gestation",
"hypertension",
"pedal edema",
"growth restriction",
"intrauterine death",
"hepatosplenomegaly",
"visceral effusions"
] | null | null | [
"severe fetal anemia",
"severe refractory anemia"
] | [
"treated with multiple in utero blood transfusions with no clinically significant improvement"
] |
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