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 |
|---|---|---|---|---|---|---|---|---|---|---|
gaucher:29845374 | The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series. | [
"We report the cognitive features and progression of Parkinson's disease (PD) in five patients with concurrent Gaucher disease. The patients presented at an earlier age than patients with sporadic PD, as previously noted by others; but in contrast to many previous reports, our patients followed a variable clinical ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the cognitive features and progression 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 Parkinson's disease (PD)\n <span style=\"font-size: 0.... | [
"Parkinson's disease (PD)",
"concurrent Gaucher disease",
"sporadic PD",
"PD",
"GD",
"idiopathic PD",
"PD"
] | [
"GBA heterozygote mutations"
] | [
"early cognitive deficits",
"dementia"
] | null | null | null | [
"remained cognitively intact over the follow-up period"
] |
gaucher:29744080 | Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously. | [
"Report a female diagnosed as type 1 Gaucher disease after a femoral pathologic fracture when she was 55 years old. Enzyme replacement therapy was started, and she achieved therapeutic goals. In 2015, a Ph' CML with numerous pseudo-Gaucher cells in bone marrow appears. BCR/ABL was not present at GD diagnosis."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Report 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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"type 1 Gaucher disease"
] | null | [
"femoral pathologic fracture",
"therapeutic goals"
] | [
"Enzyme replacement therapy"
] | null | null | [
"BCR/ABL was not present at GD diagnosis"
] |
gaucher:29656334 | Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey. | [
"Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic... | [
"<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",
"type II",
"type III Gaucher",
"Type II",
"acute progressive neuronopathic form",
"Gaucher",
"type II",
"collodion baby",
"type II Gaucher",
"perinatal lethal form"
] | [
"novel mutations",
"three novel mutations"
] | [
"Neurological involvement",
"visceral and haematological findings",
"death",
"generalized ichthyosis"
] | [
"treated with ERT for 8 months"
] | null | [
"glucosylceramidase enzyme deficiency"
] | [
"mistyped as type III"
] |
gaucher:29634566 | Thromboelastography Before Epidural Placement in a Thrombocytopenic Parturient With Gaucher Disease Treated With Imiglucerase: A Case Report. | [
"Gaucher disease is a common inborn error of metabolism leading to widespread chronic inflammation and often thrombocytopenia. Here we discuss assessment of coagulation in a parturient with Gaucher disease treated with imiglucerase, who presented with thrombocytopenia and requested epidural analgesia for planned va... | [
"<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"
] | [
"inborn error of metabolism"
] | [
"peripartum bleeding"
] | [
"imiglucerase",
"epidural analgesia",
"planned vaginal delivery",
"placing an epidural catheter",
"uncomplicated epidural analgesia",
"successful spontaneous vaginal delivery"
] | null | [
"thrombocytopenia",
"thrombocytopenia"
] | [
"normal coagulation profile by thromboelastography"
] |
gaucher:29610006 | [Type 3 Gaucher disease, also an adult disease?] | [
"Gaucher disease is a genetic lysosomal storage disorder due to a glucocerebrosidase deficiency. Type 3, including neurological impairment, may have a specific phenotype in the context of the D409H mutation.",
"We report the case of a 22-year-old woman who presented with Gaucher disease. 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 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"genetic lysosomal storage disorder",
"Type 3",
"Gaucher disease",
"type 3 Gaucher disease"
] | [
"D409H mutation",
"homozygous D409H mutation"
] | [
"neurological impairment",
"rapid clinical and biological improvement",
"neurological impairment",
"calcified heart valves",
"corneal opacities",
"alteration of oculomotricity",
"hydrocephalus",
"mild manifestation at onset",
"late neurological involvement"
] | [
"Enzyme replacement therapy by imiglucerase"
] | null | [
"glucocerebrosidase deficiency"
] | [
"communication difficulties, which were initially attributed to the language barrier"
] |
gaucher:29602947 | High-risk screening for Gaucher disease in patients with neurological symptoms. | [
"Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by the deficiency of glucocerebrosidase enzyme activity. Clinical phenotypes of GD are categorized into three groups: (i) non-neuronopathic GD (type 1), (ii) acute neuronopathic GD (type 2) and (iii) subacute neuronopathic GD (type 3)... | [
"<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",
"non-neuronopathic GD (type 1)",
"acute neuronopathic GD (type 2)",
"subacute neuronopathic GD (type 3)",
"neuronopathic GD",
"GD"
] | [
"autosomal recessive",
"compound heterozygous for the p.R159W/p.R170C locus",
"two mutations at the IVS7+1G>T (c.999+1G>T) and p.L483P sites"
] | [
"various neurological symptoms",
"various neurological symptoms"
] | null | null | [
"deficiency of glucocerebrosidase enzyme activity",
"very low enzyme activity"
] | null |
gaucher:29595653 | Type I Gaucher disease with bullous pemphigoid and Parkinson disease: A case report. | [
"Gaucher disease (GD) is a rare genetic lysosomal storage disorder inherited in an autosomal recessive pattern. GD is due to the deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver 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)",
"GD",
"Type 1 Gaucher disease (GD1)",
"Parkinson disease",
"GD1",
"Lewy body dementia",
"bullous pemphigoid",
"Type 1 Gaucher disease",
"pneumonia",
"association between GD1, bullous pemphigoid, and Lewy body dementia"
] | [
"rare genetic lysosomal storage disorder",
"inherited in an autosomal recessive pattern"
] | [
"enlarged spleen, and liver",
"bone complications (Erlenmeyer flask deformity, osteoporosis, lytic lesions, pathological and vertebral fractures, bone infarcts, and avascular necrosis leading to degenerative arthropathy)",
"neoplasia",
"immune system abnormalities",
"hepatosplenomegaly",
"died"
] | null | null | [
"deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase)",
"thrombocytopenia",
"anemia",
"hyperferritinemia",
"anemia",
"thrombocytopenia",
"alpha-synuclein"
] | [
"No specific treatment started"
] |
gaucher:29578427 | EVALUATION OF EFFICIENCY OF IMIGLUCERASE (CEREZYME) IN THE TREATMENT OF GAUCHER DISEASE (CASE REPORTS AND REVIEW OF THE LITERATURE). | [
"The data on occurrence and pathogenetic mechanisms of glucosylceramide lipidosis (Gaucher disease), which is based on the hereditary deficiency of glucocerebrosidase activity -the enzyme involved in the processing of cellular metabolism products, is presented. Clinical and morphological manifestations of the disea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The data on occurrence and pathogenetic mechanisms 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 glucosylceramide lipidosis (Gaucher disease)\n <span... | [
"glucosylceramide lipidosis (Gaucher disease)",
"Gaucher disease type 1",
"Gaucher disease",
"Gaucher disease"
] | [
"hereditary"
] | [
"stabilizes the pathological process completely",
"decreases significant changes in bones and parenchymal organs"
] | [
"enzyme replacement therapy with cerezyme drug",
"Continued treatment",
"with cerezyme"
] | null | [
"deficiency of glucocerebrosidase activity -the enzyme involved in the processing of cellular metabolism products"
] | null |
gaucher:29572599 | Laparoscopic fenestration for a huge symptomatic splenic cyst in a patient with Gaucher's disease. | [
"A 34-year-old woman visited our hospital for treatment of a huge splenic cyst with epigastric pain. She had been diagnosed with Gaucher's disease (Type 1) at 3 years of age and had been receiving enzyme replacement therapy (ERT) from 15 years of age. Abdominal MRI showed a low-intensity area, 30 cm in diameter, wi... | [
"<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 34-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease (Type 1)",
"Gaucher's disease",
"extremely rare metabolic disease",
"Gaucher's disease"
] | null | [
"huge splenic cyst",
"epigastric pain",
"low-intensity area, 30 cm in diameter, with a well-defined border on T1-weighted images",
"worsening epigastric pain caused by the cyst",
"cyst contained 2,500 ml of brownish-red fluid",
"huge symptomatic splenic cyst"
] | [
"receiving enzyme replacement therapy (ERT)",
"laparoscopic fenestration of the huge splenic cyst",
"laparoscopic fenestration"
] | null | null | null |
gaucher:29489979 | Gaucher's disease in a patient presenting with hip and abdominal pain. | [
"Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liv... | [
"<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",
"type 1",
"non-neuropathic form",
"Gaucher's disease"
] | null | [
"hepatosplenomegaly",
"bone lesions",
"Findings associated with liver, spleen or bone involvement",
"Improvement in extraskeletal system findings",
"infection",
"pain",
"hepatosplenomegaly",
"splenic infarction",
"splenic nodules",
"femur fracture"
] | [
"enzyme replacement therapy",
"Support therapy"
] | null | [
"Pancytopenia",
"anemia"
] | null |
gaucher:29373994 | Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports. | [
"Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative. Both enzyme replacement therapy and substrate reduction therapy are generally used as monotherapies in Gaucher disease. However, one randomized study ... | [
"<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 Intravenous enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Gaucher disease type 1",
"Gaucher disease",
"Gaucher disease type 1",
"Gaucher disease type 1"
] | null | [
"refractory clinical symptoms",
"Gaucher disease-related bone manifestations",
"bone symptoms improved",
"tremors",
"bone pain",
"bone symptoms improved",
"maintained visceral manifestations",
"core symptoms were maintained/stable for 3 years",
"symptoms were subsequently maintained over a 2.3-year ... | [
"Intravenous enzyme replacement therapy",
"substrate reduction therapy",
"oral treatment alternative",
"enzyme replacement therapy and substrate reduction therapy",
"monotherapies",
"combination therapy over short time periods",
"combined enzyme replacement therapy and miglustat substrate reduction ther... | [
"Anglo-Saxon descent"
] | null | [
"worsened despite starting imiglucerase enzyme replacement therapy"
] |
gaucher:29354164 | Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease. | [
"Gaucher's disease (GD) is a rare disease characterized by a β-glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, 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's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher's disease (GD)",
"Gaucher",
"glass child - osteogenesis imperfecta"
] | null | [
"bone pain",
"hepatosplenomegaly",
"growth retardation",
"interstitial pulmonary disease",
"pulmonary hypertension",
"skeletal disorders",
"Skeletal system involvement",
"joint deformities due to skeletal fractures",
"GD's skeletal involvement"
] | null | null | [
"anemia",
"thrombocytopenia"
] | null |
gaucher:29334776 | Multiple intracranial aneurysms in a patient with type I Gaucher disease: a case report and literature review. | [
"Multiple intracranial aneurysms (IAs) have never been reported in a patient with Gaucher disease (GD). A 69-year-old-female with type I GD presented with a left sixth nerve palsy due to a large posterior inferior cerebellar artery (PICA) aneurysm. Cerebral angiography demonstrated fifteen unruptured IAs (UIAs)."
] | [
"<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 Multiple intracranial aneurysms (IAs)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Gaucher disease (GD)",
"type I GD"
] | null | [
"Multiple intracranial aneurysms (IAs)",
"left sixth nerve palsy",
"large posterior inferior cerebellar artery (PICA) aneurysm",
"fifteen unruptured IAs (UIAs)"
] | null | null | null | null |
gaucher:29237663 | Progressive myoclonic epilepsy and horizontal gaze palsy: a rare aetiology. | [
"Gaucher's disease is a rare autosomal recessive, potentially fatal disorder but most common type among lysosomal storage disorders. The disease's incidence is around 1/40 000 to 1/60 000 births in the general population. A 32-year-old man, born out of non-consanguineous union, presented with generalised tonic-clon... | [
"<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 disorders"
] | [
"rare autosomal recessive"
] | [
"generalised tonic-clonic seizures",
"myoclonus",
"gait imbalance",
"intentional tremor",
"dysarthria",
"hepatosplenomegaly",
"bilateral pancerebellar signs",
"major cognitive impairment",
"impaired frontal and temporal lobar functions"
] | null | null | null | [
"Seizures were noted to be resistant to multiple epileptic drugs",
"normal power, reflexes and sensory system"
] |
gaucher:29207722 | Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma. | [
"Gaucher Disease is an autosomal recessive disease caused by the accumulation of glucocerebrosidase due to deficiency in lysosomal glucocerebrosidase. Thalassaemia trait is asymptomatic and is usually an incidental diagnosis. Both thalassaemia and Gaucher disease can have similar haematologic manifestations and hen... | [
"<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",
"Thalassaemia trait",
"thalassaemia",
"Gaucher disease",
"lipid storage disease",
"Thalassaemia trait",
"haemoglobinopathies",
"thalassaemia",
"leukaemia",
"mycobacterial infections",
"myeloma",
"Gaucher disease coexisting with thalassaemia trait",
"occurrence of thalassae... | [
"autosomal recessive disease"
] | [
"weakness",
"pallor",
"failure to thrive",
"massive hepatosplenomegaly",
"massive liver and spleen enlargement",
"splenomegaly"
] | [
"therapeutic splenectomy"
] | null | [
"deficiency in lysosomal glucocerebrosidase",
"haematologic manifestations",
"Anaemia",
"thrombocytopenia"
] | [
"asymptomatic",
"clinically asymptomatic",
"normal beta-glucocerebrosidase"
] |
gaucher:31440638 | Corrective surgery for kyphosis in a case of Gaucher's disease without history of vertebral compression fractures. | [
"Gaucher's disease is a congenital metabolic disorder characterized by the accumulation of glucocerebroside in the reticuloendothelial system. Its clinical manifestations include splenomegaly, osteopenia, and pathological fractures. Cases of patients with kyphotic deformities caused by pathological vertebral compre... | [
"<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",
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | [
"congenital metabolic disorder"
] | [
"splenomegaly",
"osteopenia",
"pathological fractures",
"kyphotic deformities",
"pathological vertebral compression fractures",
"progressive kyphosis (84° between T6 and L3, with T12 as the apical vertebra)",
"kyphosis",
"corrected the kyphosis to 35°",
"fractures of the upper and lower extremities"... | [
"surgical treatment of kyphotic deformity",
"surgical treatment for kyphotic deformity",
"treated using a brace",
"corrective surgery",
"T3-L3 posterior spinal fusion, followed by anterior fusion 3 months later",
"Two-stage anterior/posterior combined correction and fusion",
"kyphotic deformity",
"pos... | null | null | [
"without compression fractures",
"without a past history of vertebral compression fractures",
"without compression fractures",
"did not have spinal fractures",
"without compression fractures"
] |
gaucher:29171474 | [Progressive pulmonary hypertension in a patient with type 1 Gaucher disease]. | [
"Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the catabolism of lipids, which results in the accumulation of nonutili... | [
"<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",
"enzymopathies",
"lysosomal storage diseases",
"type 1 Gaucher disease",
"Gaucher disease",
"pneumosclerosis",
"type 1 Gaucher disease"
] | [
"hereditary",
"hereditary"
] | [
"hepatomegaly",
"splenomegaly",
"bone lesion",
"damage to the lungs",
"pulmonary hypertension",
"progressive pulmonary hypertension"
] | null | null | [
"deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the catabolism of lipids",
"cytopenia"
] | null |
gaucher:29091352 | Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene. | [
"Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, Gly202Arg (c.721G>A; p.Gly241Arg) ... | [
"<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)",
"autosomal lysosomal storage disease",
"type 2, an acute neuronopathic form",
"GD"
] | [
"recessively inherited",
"inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, Gly202Arg (c.721G>A; p.Gly241Arg) arose by either maternal germline mosaicism or as a de novo mutation",
"mutation Gly202Arg",
"to be inherited non-traditionally",
"inherited via germl... | null | [
"genetic counseling"
] | null | null | null |
gaucher:29020245 | Guillain-Barré Syndrome Associated With Zika Virus Infection in Martinique in 2016: A Prospective Study. | [
"Guillain-Barré syndrome (GBS) has been reported to be associated with Zika virus (ZIKV) infection in case reports and retrospective studies, mostly on the basis of serological tests, with the problematic cross-reacting antibodies of the Flavivirus genus. Some GBS cases do not exhibit a high level of diagnostic cer... | [
"<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 Guillain-Barré syndrome (GBS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Guillain-Barré syndrome (GBS)",
"Zika virus (ZIKV) infection",
"GBS",
"GBS associated with ZIKV",
"ZIKV",
"GBS",
"GBS",
"GBS",
"ZIKV infection",
"GBS",
"ZIKV infection",
"severe GBS",
"ZIKV infection",
"severe GBS",
"GBS"
] | null | [
"primary demyelinating form of the disease",
"ZIKV"
] | [
"adequate intensive care bed capacity"
] | [
"Martinique"
] | [
"problematic cross-reacting antibodies of the Flavivirus genus",
"proof of recent ZIKV infection"
] | [
"do not exhibit a high level of diagnostic certainty",
"negative screening for etiologies of GBS",
"benign"
] |
gaucher:28848108 | Intrathecal Baclofen Pump Implantation for Type 2 Gaucher Disease. | [
"Gaucher disease (GD) is the most common type of lysosomal storage disease, with type 2 being the most severe subtype. Type 2 GD patients suffer significant progressive neurological impairment, including spasticity, opisthotonus, seizure, and apnea. The recently developed enzyme replacement therapy (ERT) has shown ... | [
"<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",
"type 2",
"Type 2 GD",
"GD",
"spastic neurological diseases",
"cerebral palsy",
"lysosomal storage diseases",
"GD",
"type 2 GD"
] | null | [
"significant progressive neurological impairment",
"spasticity",
"opisthotonus",
"seizure",
"apnea",
"improving several manifestations of GD",
"scoliosis caused by muscle spasticity",
"respiratory function",
"ameliorating the neurological aspects"
] | [
"enzyme replacement therapy (ERT)",
"Intrathecal baclofen therapy (IBT)",
"IBT",
"IBT"
] | null | null | [
"the enzymes do not cross the blood-brain barrier",
"ERT does not ameliorate neurological impairment in GD"
] |
gaucher:28702360 | Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy. | [
"The availability of three enzyme replacement therapy (ERT) drugs and two substrate reduction therapy (SRT) drugs to treat Gaucher disease provides an opportunity to tailor therapies to a patient's specific clinical concerns. However, there is a gap in the literature regarding individual drug effectiveness in treat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The availability of three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy (ERT) drugs\n <span style=\"font-size: 0.8em; font-we... | [
"Gaucher disease",
"Gaucher disease type 1"
] | null | [
"several episodes of bleeding with minimal trauma and bruises"
] | [
"enzyme replacement therapy (ERT) drugs",
"substrate reduction therapy (SRT) drugs",
"combination treatment",
"treated with ERT at doses up to 60 units/kg weekly",
"transitioned to SRT",
"SRT",
"Oral administration of SRT",
"discontinuation of weekly ERT infusions"
] | null | [
"profound thrombocytopenia (around 20 × 109/L, normal range: 150-450 × 109/L)",
"platelet levels increased almost two fold within the first month, and have remained stable at safe levels (30-60 × 109/L) for almost 2.5 years"
] | [
", with no improvement in platelet levels for 6 years",
"do not meet therapeutic goals in terms of thrombocytopenia after a considerable period on first-line ERT treatment"
] |
gaucher:28699604 | Torsion of a wandering spleen in an adolescent with Gaucher disease. | [
"A wandering spleen is a rare condition characterized by the malposition of the spleen due to laxity or absence of its supporting ligaments. Although Gaucher disease generally presents with massive splenomegaly, which one of the predisposing causes of a wandering spleen, literature shows only one report of a wander... | [
"<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 wandering spleen\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | null | [
"wandering spleen",
"malposition of the spleen due to laxity or absence of its supporting ligaments",
"massive splenomegaly",
"wandering spleen",
"wandering spleen",
"abdominal mass",
"partial torsion of a wandering spleen associated with left lobe hypoplasia of the liver"
] | [
"enzyme replacement treatment"
] | null | null | null |
gaucher:28648811 | A case of improved hearing with cochlear implantation in Gaucher disease type 1. | [
"Gaucher disease is a lysosomal storage disorder that is caused by congenital defective function of the enzyme glucocerebrosidase. Glucocerebroside that is not hydrolyzed by glucocerebrosidase mainly accumulates in the reticular tissue. We describe a Japanese boy with Gaucher disease type 1 who developed bilateral ... | [
"<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 type 1",
"Gaucher disease type 2 or 3",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | null | [
"bilateral profound sensorineural hearing loss",
"central hearing loss",
"profound inner ear hearing loss",
"sensorineural hearing loss",
"hearing loss"
] | [
"cochlear implantation",
"cochlear implants",
"cochlear implantation",
"Cochlear implants"
] | [
"Japanese"
] | [
"defective function of the enzyme glucocerebrosidase"
] | [
"without neurological symptoms"
] |
gaucher:28546865 | Parkinson disease in Gaucher disease. | [
"Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD.",
"We report two patients with GD that developed PD at different disease stages.",
"We... | [
"<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",
"PD",
"GD",
"PD",
"coexistence of PD and GD"
] | [
"inborn error of metabolism",
"mutations in the gene (GBA) coding for glucocerebrosidase (GCase)",
"inherited in an autosomal recessive pattern",
"type of GBA mutation inherited"
] | null | null | null | null | null |
gaucher:28527173 | Gaucher Disease Presenting in an Adult with Intracerebral Bleed. | [
"Gaucher disease (GD) is the most common lysosomal storage disorder, caused by deficiency of acid beta glucosidase. GD usually presents in children but occasional cases can present in adulthood. Here we report a case of type I GD in a 37 year old female who presented with intracerebral bleed due to long standing th... | [
"<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",
"type I GD"
] | null | [
"intracerebral bleed",
"neurological status also improved"
] | [
"splenectomy",
"enzyme replacement therapy",
"splenectomy"
] | null | [
"deficiency of acid beta glucosidase",
"long standing thrombocytopenia",
"platelet counts normalised"
] | null |
gaucher:28506293 | Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy. | [
"Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).",
"Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infil... | [
"<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 Gastrointestinal involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Gaucher disease",
"Gaucher",
"Gaucher disease"
] | [
"Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene"
] | [
"Gastrointestinal involvement",
"epigastric discomfort",
"persistent duodenal lesions"
] | [
"splenectomized",
"on long-term ERT for 9 years",
"switched to eliglustat tartrate for 1 year",
"maintained ERT",
"eliglustat"
] | null | [
"reduced chitotriosidase levels"
] | [
"unresponsive to enzyme replacement therapy (ERT)",
"non-neuronopathic",
"no improvement of chitotriosidase level",
"lesions resistant to ERT"
] |
gaucher:28457694 | A rare form of Gaucher disease resulting from saposin C deficiency. | [
"Gaucher disease is mainly caused by the deficiency of lysosomal acid β-glucosidase. Gaucher disease caused by the deficiency of saposin C is rare. Here we report a patient mainly presenting with hepatosplenomegaly, thrombocytopenia and anemia. EEG examination revealed increased theta waves. Gaucher cells identifie... | [
"<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",
"Gaucher disease",
"Gaucher disease"
] | [
"novel maternal exonic mutation c.1133C>G (p.Pro378Arg) in exon 10 of the PSAP gene, which codes the Sap C domain of PSAP protein",
"deletion involving exon 2 to 7 of PSAP gene",
"The deletion appears as a de novo event on paternal chromosome",
"biallelic mutations of PSAP gene"
] | [
"hepatosplenomegaly",
"increased theta waves"
] | null | null | [
"deficiency of lysosomal acid β-glucosidase",
"deficiency of saposin C",
"thrombocytopenia",
"anemia",
"highly elevated plasma chitotriosidase activity and glucosylsphingosine",
"saposin C deficiency"
] | [
"leukocyte β-glucosidase activity was in a normal range"
] |
gaucher:28416913 | Long-term response in biochemical markers of bone turnover during enzyme replacement therapy in a case-series of patients with Gaucher disease type I from Northern Greece. | [
"Gaucher disease (GD) is a lysosomal storage disorder characterized by severe skeletal complications. Bone complications are an important cause of morbidity of GD and are thought to result from imbalance in bone remodeling. The objective of this case series was to analyze the long-term effect of enzyme replacement ... | [
"<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",
"GD",
"GD type I",
"GD",
"GD"
] | null | [
"severe skeletal complications",
"Bone complications",
"imbalance in bone remodeling",
"bone imaging parameters",
"Bone mineral density (BMD) demonstrated a progressive improvement"
] | [
"enzyme replacement therapy",
"receiving enzyme replacement therapy (ERT), with 40-60 IU/kg of imiglucerase weekly, for a mean period of 36 months",
"ERT",
"ERT",
"after two years of ERT",
"ERT"
] | [
"Northern Greece"
] | [
"chemokines MIP-1a and MIP-1b",
"cytokines IL-3, IL-6, IL-10, and IL-12",
"osteoprotegerin (OPG) and osteocalcin (BGP)",
"chitotriosidase",
"levels of MIP-1a, MIP-1b, IL-3, IL-6, IL-10, IL-12, OPG, BGP, chitotriosidase",
"Chitotriosidase, MIP-1a, and IL-6 levels decreased",
"OPG and BGP levels increased... | [
"no correlation between MRI findings and any inflammatory biomarker"
] |
gaucher:28393750 | Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature. | [
"Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presen... | [
"<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",
"type I, non-neuronopathic",
"type II, acute neuronopathic",
"type III, chronic neuronopathic",
"Type IIIC",
"type IIIC Gaucher disease"
] | [
"autosomal-recessive",
"mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow",
"homozygous D409H is the",
"mutation"
] | [
"neurological symptoms",
"cardiovascular involvement",
"eye-movement disorders",
"late-onset neurological symptoms",
"complaints of syncope"
] | null | null | null | null |
gaucher:28272068 | Rare disease heralded by pulmonary manifestations: Avoiding pitfalls of an "asthma" label. | [
"Pulmonary manifestations are seldom recognized as symptoms of storage disorders. The report describes the diagnostic journey in a 30-month-old male infant, born of a third-degree consanguineous marriage referred to our institute as severe persistent asthma. History revealed that the child had progressively worseni... | [
"<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 Pulmonary manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"storage disorders",
"severe persistent asthma",
"interstitial lung disease (ILD)",
"ILD",
"lysosomal storage disorders",
"Niemann-Pick disease type C",
"lysosomal storage disorders"
] | [
"homozygous mutation in the NPC2 gene"
] | [
"Pulmonary manifestations",
"progressively worsening breathlessness",
"persistent dry cough",
"weight loss",
"growth failure",
"respiratory distress",
"clubbing",
"hepatosplenomegaly",
"occasional rhonchi",
"perihilar alveolar infiltrates",
"patchy consolidation",
"visceromegaly",
"clubbing"... | [
"oxygen administration"
] | null | [
"hypoxemia"
] | [
"not associated with fever",
"did not support a diagnosis of asthma",
"Gaucher disease and Niemann-Pick disease A/B were ruled out by enzyme estimation",
"caution physicians against labeling breathlessness in every toddler as asthma"
] |
gaucher:28144704 | Gaucher disease in the liver on hepatocyte specific contrast agent enhanced MR imaging. | [
"Gaucher disease is a hereditary lipid storage disorder that affects the enzyme beta glucocerebrosidase, causing accumulation of glucocerebroside in macrophages of the reticuloendothelial system. Accumulation can occur in the liver and spleen, manifesting as hepatosplenomegaly, as well as within the bone marrow. 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 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"
] | [
"hereditary"
] | [
"hepatosplenomegaly",
"Hepatic involvement",
"focal liver lesions",
"infiltrating liver lesion"
] | null | null | [
"enzyme beta glucocerebrosidase"
] | null |
gaucher:28103924 | Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report. | [
"The variants of neuronopathic Gaucher disease may be viewed as a clinical phenotypic continuum divided into acute and chronic forms. The chronic neuronopathic form of Gaucher disease is characterized by a later onset of neurological symptoms and protracted neurological and visceral involvement. The first-choice tr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The variants 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 neuronopathic Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"neuronopathic Gaucher disease",
"chronic neuronopathic form of Gaucher disease",
"nonneuronopathic Gaucher disease",
"neuronopathic Gaucher disease",
"neuronopathic Gaucher disease",
"chronic neuronopathic Gaucher disease",
"Gaucher disease subtype"
] | [
"homozygous for L444P mutations"
] | [
"later onset of neurological symptoms",
"protracted neurological and visceral involvement",
"improve hematological and bone manifestations associated with Gaucher disease",
"neurological symptoms",
"mild diarrhea",
"splenomegaly was reduced",
"neurological signs"
] | [
"enzyme replacement therapy with recombinant analogues of the deficient human enzyme glucocerebrosidase",
"Enzyme replacement therapy",
"Substrate reduction therapy with miglustat (N-butyldeoxynojirimycin)",
"miglustat",
"combined with enzyme replacement therapy",
"combined enzyme replacement therapy and ... | [
"Caucasian"
] | [
"inhibits glucosylceramide synthase",
"glycosphingolipid synthesis",
"hematological values and plasma angiotensin-converting enzyme activity normalized",
"Plasma chitotriosidase also showed substantial and sustained decreases"
] | [
"recombinant enzymes cannot cross the blood-brain barrier, which prevents effects on neurological manifestations",
"no signs of neurological impairment"
] |
gaucher:28060125 | Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease. | [
"Protein-losing enteropathy due to massive mesenteric lymphadenopathy is a rare complication of Gaucher disease which is generally refractory to treatment with enzyme replacement and substrate reduction therapies. It is postulated that lymph nodes may act as a \"sanctuary site\" into which these treatments cannot p... | [
"<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 Protein-losing enteropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Gaucher disease",
"Gaucher disease",
"malignancy",
"Gaucher disease"
] | null | [
"massive mesenteric lymphadenopathy",
"massive mesenteric lymph nodes",
"Large volume lymphadenopathy",
"significant ascites",
"clinical features of protein-losing enteropathy"
] | [
"enzyme replacement and substrate reduction therapies",
"otherwise successful treatment with enzyme replacement therapy"
] | null | [
"Protein-losing enteropathy",
"protein-losing enteropathy"
] | [
"treatments cannot penetrate"
] |
gaucher:28003644 | Norrbottnian clinical variant of Gaucher disease in Southern Italy. | [
"The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological entity with a characteristic course of clinical manifestations. ... | [
"<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 Norrbottnian type of Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Norrbottnian type of Gaucher disease (GD)",
"Gaucher type 3",
"GD"
] | [
"unique neuronopathic variant (c.1448T>G; L444P)",
"genotype [L444P]+[L444P]"
] | [
"early onset of significant hepatosplenomegaly",
"Neurological involvement",
"horizontal gaze palsy",
"epilepsy",
"myoclonic movements",
"ataxia",
"dementia",
"cognitive impairment",
"Osteopenia occurs primarily in the spine",
"severe and progressive thoracic kyphosis",
"involvement of other ske... | [
"splenectomy"
] | [
"northern Sweden",
"Norrbottnian",
"Sweden",
"Poland",
"Southern Italian",
"Southern Italian",
"Swedish Norrbottnian",
"Southern Italy"
] | null | [
"poor responsiveness to any therapeutical approach"
] |
gaucher:27993825 | Invasive group G streptococcal infection in a paediatric patient. | [
"We present a paediatric case of group G streptococcal bacteraemia and vertebral osteomyelitis. The patient is a 14-year-old girl with Gaucher disease type 1 who presented with severe thoracolumbar pain. She was treated with a 4-week course of antibiotics for presumed osteomyelitis with clinical improvement."
] | [
"<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 paediatric\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"group G streptococcal bacteraemia",
"vertebral osteomyelitis",
"Gaucher disease type 1",
"presumed osteomyelitis"
] | null | [
"severe thoracolumbar pain",
"clinical improvement"
] | [
"4-week course of antibiotics"
] | null | null | null |
gaucher:27922757 | Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate. | [
"To present the diagnostic workup in an extremely low birth weight infant patient with signs of both sepsis and hemophagocytosis.",
"A preterm infant presented with clinical and laboratory signs of early-onset sepsis including hepatosplenomegaly, thrombocytopenia, direct hyperbilirubinemia, and elevated liver enz... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To present the diagnostic workup in 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 extremely low birth weight\n <span style=\"font-size: 0.8em; font-w... | [
"primary or secondary hemophagocytic lymphohistiocytosis (HLH)",
"Gaucher disease (GD) type 2",
"HLH",
"GD",
"secondary HLH"
] | null | [
"extremely low birth weight",
"signs of both sepsis and hemophagocytosis",
"clinical and laboratory signs of early-onset sepsis",
"hepatosplenomegaly"
] | null | null | [
"thrombocytopenia",
"direct hyperbilirubinemia",
"elevated liver enzymes",
"hyperferritinemia",
"elevated inflammatory parameters"
] | [
"no underlying infection was detected",
"primary HLH has been excluded"
] |
gaucher:27915213 | Case report of cholelithiasis in a patient with type 1 Gaucher disease. | [
"Patients with type 1 Gaucher disease have been reported to be more likely to have cholelithiasis.",
"A case of cholelithiasis in a patient with type 1 Gaucher disease; which is very intriguing to show this comorbidity. The case was the only known case with this pathology in time of diagnosis in our country (Koso... | [
"<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 type 1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"type 1 Gaucher disease",
"cholelithiasis",
"cholelithiasis",
"type 1 Gaucher disease",
"type 1 Gaucher disease",
"Type 1 Gaucher disease",
"Gallstones",
"cholecystitis"
] | [
"inborn error of metabolism"
] | [
"Chronic inflammatory changes",
"adhesions",
"risk factors for gallstone formation",
"advanced liver disease and cirrhosis",
"splenomegaly",
"chronic systemic inflammation",
"insulin resistance",
"abdominal symptoms",
"liver dysfunctions"
] | [
"elective laparoscopic cholecystectomy",
"surgery"
] | [
"Kosovo",
"Kosovo"
] | [
"increased biliary excretion of glucosylceramide",
"T cell dysfunction"
] | null |
gaucher:27908537 | The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature. | [
"Gaucher disease (GD) patients have an increased risk of cancer, in particular of hematological origin, while the association between GD and Neuroblastoma (NBL) has never been described. Here we report the case of an adolescent diagnosed with NBL, also presenting splenomegaly and persistent thrombocytopenia. The as... | [
"<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)",
"cancer",
"hematological",
"GD",
"Neuroblastoma (NBL)",
"NBL",
"GD",
"GD comorbidities",
"GD"
] | null | [
"splenomegaly"
] | null | null | [
"persistent thrombocytopenia"
] | null |
gaucher:27876313 | Lysosomal acid lipase deficiency: Expanding differential diagnosis. | [
"The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglyc... | [
"<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 differential diagnoses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"metabolic liver diseases",
"lysosomal acid lipase deficiency (LAL-D)",
"LAL-D",
"LAL-D",
"progressive, multi-organ disease",
"LAL-D",
"LAL-D",
"LAL-D",
"LAL-D",
"LAL-D",
"LAL-D"
] | null | [
"early mortality",
"hepatic dysfunction",
"dyslipidemia",
"liver failure",
"accelerated atherosclerosis",
"early mortality",
"improve disease-relevant markers"
] | [
"diet",
"lipid-lowering medication",
"treatment with sebelipase alfa, a recombinant enzyme replacement therapy"
] | null | [
"deficient activity of the LAL enzyme"
] | [
"underdiagnosed or misdiagnosed",
"other diseases, such as Gaucher disease and Niemann-Pick disease, were initially suspected"
] |
gaucher:27866810 | Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy. | [
"Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase and accumulation of glucocerebroside. Three major sub-types have been described, type 2 is an acute neurological form that exhibits serious general symptoms and poor prognosis, compared with the other types. This case was a g... | [
"<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",
"type 2",
"acute neurological form",
"type 2 Gaucher disease",
"type 2Gaucher disease"
] | null | [
"serious general symptoms",
"poor weight gain",
"stridor",
"hypertonia",
"hepatosplenomegaly",
"trismus",
"eye movement disorder",
"myoclonus",
"developmental regression",
"respiratory failure",
"died"
] | [
"Enzyme replacement therapy (ERT)",
"artificial ventilation"
] | null | [
"deficiency of glucocerebrosidase"
] | [
"without Gaucher cells",
"ERT was relatively ineffective in pulmonary involvement, particularly intra-alveolar"
] |
gaucher:27839983 | Gaucheromas: When macrophages promote tumor formation and dissemination. | [
"Deficiency of the lysosomal enzyme, β-glucocerebrosidase, and accumulation of its substrate in cells of the reticuloendothelial system affects multiple organ systems in patients with Gaucher disease (GD). Lipid laden macrophages turn into Gaucher cells (GC) which are the pathological characteristic of GD. GC focal... | [
"<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 Deficiency of the lysosomal enzyme, β-glucocerebrosidase\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Gaucher disease (GD)",
"GD",
"GD",
"GD"
] | [
"genotypes L444P/L444P and N370S/N370S",
"higher expression of CD16+/CCR4+ non-classical monocytes in blood",
"non-classical CD16+/CCR4+ monocytes"
] | null | null | null | [
"Deficiency of the lysosomal enzyme, β-glucocerebrosidase",
"reactivity against CD163, CD68 and VEGF"
] | [
"The cell proliferative marker Ki67 and CCL2, a factor anti-tumor activity, were negative"
] |
gaucher:27821156 | Successful switch from enzyme replacement therapy to miglustat in an adult patient with type 1 Gaucher disease: a case report. | [
"Gaucher disease is one of the most common lipid-storage disorders, affecting approximately 1 in 75,000 births. Enzyme replacement therapy with recombinant glucocerebrosidase is currently considered the first-line treatment choice for patients with symptomatic Gaucher disease type 1. Oral substrate reduction 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 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lipid-storage disorders",
"symptomatic Gaucher disease type 1",
"mild to moderate Gaucher disease type 1",
"Gaucher disease type 1",
"stable Gaucher disease type 1",
"Gaucher disease type 1",
"Gaucher disease type 1",
"Gaucher disease type 1"
] | null | [
"bone mineral density findings have remained stable",
"quality of life has remained satisfactory",
"good gastrointestinal tolerability"
] | [
"Enzyme replacement therapy with recombinant glucocerebrosidase",
"Oral substrate reduction therapy",
"oral substrate reduction therapy miglustat (Zavesca®)",
"miglustat",
"maintenance therapy",
"switched from previous enzyme replacement therapy",
"switch to oral substrate reduction therapy with miglust... | [
"Caucasian"
] | [
"maintained both hemoglobin and platelet levels within acceptable ranges over 8 years",
"plasma chitotriosidase levels stayed at reduced levels"
] | [
"unable or unwilling to receive lifelong intravenous enzyme infusions",
"initially treated with enzyme replacement therapy",
"repeated cutaneous allergic reactions, had to be switched to miglustat after several attempts with enzyme replacement therapy",
"desensitization treatment did not result in improved to... |
gaucher:27769081 | An Unusual Case of LCHAD Deficiency Presenting With a Clinical Picture of Hemophagocytic Lymphohistiocytosis: Secondary HLH or Coincidence? | [
"There are published reports stating that some of the congenital metabolic diseases, such as lysinuric protein intolerance, multiple sulphatase deficiency, galactosemia, Gaucher disease, Pearson syndrome, and galactosialidosis, might lead to secondary hemophagocytic lymphohistiocytosis (HLH). However, to date, to o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are published reports stating that some of 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 congenital metabolic diseases\n <span style=\"font-si... | [
"lysinuric protein intolerance",
"multiple sulphatase deficiency",
"galactosemia",
"Gaucher disease",
"Pearson syndrome",
"galactosialidosis",
"secondary hemophagocytic lymphohistiocytosis (HLH)",
"HLH",
"HLH",
"HLH"
] | [
"congenital metabolic diseases"
] | [
"liver failure",
"rhabdomyolysis"
] | null | null | [
"long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency",
"pancytopenia",
"LCHAD deficiency",
"LCHAD deficiency",
"hypoglycemia",
"metabolic acidosis",
"elevated creatine kinase"
] | null |
gaucher:27734818 | [Late diagnosis of Gaucher's disease - care reports]. | [
"Gaucher's disease if one of the most frequent, among extremely rare, lysosomal storage diseases. It is the autosomal recessive inherited metabolic disorder, which can present in three main clinical forms. Type 1 - the most benign, in a not-neuropathic form, and types 2 and 3, both in neuropathic form, which manife... | [
"<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 diseases",
"metabolic disorder",
"Type 1 - the most benign, in a not-neuropathic form",
"types 2 and 3, both in neuropathic form",
"Gaucher's disease",
"Gaucher's disease type 1",
"Gaucher's disease"
] | [
"autosomal recessive inherited"
] | [
"serious neurological symptoms",
"chronic weakness",
"bone pains",
"recovery of organ disturbances"
] | [
"effective substitutive therapy"
] | [
"Polish"
] | null | [
"no spectacular symptoms"
] |
gaucher:27717752 | Appendiceal involvement in a patient with Gaucher disease. | [
"Almost any anatomical compartment may be involved in Gaucher disease (GD). Abdominal lymphadenopathy occurred during enzyme replacement therapy in more than a dozen children with GD so far. A fourteen-year-old boy from Serbia developed clinical signs of acute appendicitis six years after the onset of GD type 3 rel... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Almost any anatomical compartment may be involved 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 Gaucher disease (GD)\n <span style=\"font-size: 0.8em... | [
"Gaucher disease (GD)",
"GD",
"GD type 3",
"GD",
"appendicitis"
] | null | [
"Abdominal lymphadenopathy",
"clinical signs of acute appendicitis",
"abdominal lymphadenopathy",
"diffuse thickening of the intestinal wall in the ileocoecal region"
] | [
"enzyme replacement therapy",
"appendectomy",
"conservative treatment with antibiotics"
] | [
"Serbia"
] | null | null |
gaucher:27503099 | Large soft-tissue masses in an adult patient with Gaucher disease. | [
"Extra-osseous masses are rarely seen in Gaucher disease. Here we present a case of a 30-year-old patient with Gaucher disease type 3, receiving β-glucocerebrosidase enzyme replacement therapy, who presented with slowly enlarging masses along her back. There was no osseous extension seen on imaging. Biopsy of the m... | [
"<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 Extra-osseous masses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease",
"Gaucher disease type 3"
] | null | [
"Extra-osseous masses",
"slowly enlarging masses along her back",
"soft-tissue masses"
] | [
"receiving β-glucocerebrosidase enzyme replacement therapy"
] | null | null | [
"no osseous extension"
] |
gaucher:27429014 | A case of traction retinal detachment in a patient with Gaucher disease. | [
"This is the first report of vitreous surgery for traction retinal detachment in a patient with type III Gaucher disease with multiple vitreous opacities.",
"A 16-year-old boy who was diagnosed with Gaucher disease at age two and was undergoing enzyme replacement therapy presented with numerous white opacities of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is the first report 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 vitreous surgery\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"type III Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | null | [
"traction retinal detachment",
"multiple vitreous opacities",
"numerous white opacities of varying sizes in the vitreous bodies of both eyes",
"Visual acuity was 20/40 in the right eye and 20/2000 in the left eye",
"The retina of the left eye was completely detached",
"Liquefaction of the vitreous body wa... | [
"vitreous surgery",
"enzyme replacement therapy",
"vitreous surgery",
"The macular region was successfully aspirated with a vitreous cutter to form a posterior vitreous detachment",
"vitreous body resection alone"
] | null | null | [
"From the optic disk to the nasal side, however, posterior vitreous detachment formation was prevented by strong adhesions between the retina and the vitreous body"
] |
gaucher:27098793 | A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease. | [
"Gaucher's disease (GD) is an autosomal recessive disorder caused by a deficiency of acid β-glucosidase (glucocerebrosidase [GBA]) that results in the accumulation of glucocerebroside within macrophages. Many mutations have been reported to be associated with this disorder. This study aimed to discover more mutatio... | [
"<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 (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher's disease (GD)",
"GD"
] | [
"autosomal recessive disorder",
"GCase is relatively conserved at p.T219A.",
"novel mutation differs from its wild-type in structure",
"novel mutation (c.655A>G, p.T219A) is a pathogenic missense mutation"
] | null | null | null | [
"deficiency of acid β-glucosidase (glucocerebrosidase [GBA])",
"reduction in GCase enzyme activity"
] | null |
gaucher:27064303 | The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy. | [
"Background Gaucher disease (GD) is an autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. The presence of central nervous system disease is a hallmark of the neuronopathic forms of GD (types 2 and 3). Intraocular lesions (e.g. corneal clouding, re... | [
"<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)",
"lipid storage disorder",
"neuronopathic forms of GD (types 2 and 3)",
"GD type 3 (GD3)",
"GD3",
"GD3",
"GD3",
"GD3"
] | [
"autosomal recessive",
"L444P homozygous GD3",
"(mutation c.1448T > C in the GBA1 gene)"
] | [
"central nervous system disease",
"Intraocular lesions",
"corneal clouding",
"retinal lesions",
"vitreous opacities",
"intraocular lesions",
"fundus lesions",
"presence of discrete lesions located preretinally, intraretinally in the nerve fiber layer, and in the vitreous body",
"newly identified ret... | [
"enzyme replacement therapy (ERT)",
"long-term ERT"
] | [
"Polish"
] | [
"deficient activity of the lysosomal enzyme glucocerebrosidase"
] | [
"despite 10 years of ERT",
"not shown any significant progression of the fundus lesions"
] |
gaucher:26847548 | Neonatal Jaundice with Splenomegaly: Not a Common Pick. | [
"The most common conditions causing cholestatic jaundice in infants are biliary atresia, neonatal hepatitis, and Alagille syndrome. In these disorders, the clinical presentation includes jaundice, pale stools, dark urine and hepatomegaly. Splenomegaly is not an early feature since it is due to portal hypertension, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The most common conditions causing \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cholestatic jaundice\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"cholestatic jaundice",
"biliary atresia",
"neonatal hepatitis",
"Alagille syndrome",
"Niemann-Pick type C disease (NP-C)",
"lysosomal storage disorder",
"Gaucher disease type 2",
"Gaucher disease",
"hepatitis"
] | null | [
"jaundice",
"pale stools",
"dark urine",
"hepatomegaly",
"Splenomegaly",
"portal hypertension",
"cholestatic jaundice",
"large spleen",
"liver disease",
"splenomegaly"
] | null | null | null | [
"not ascribed to NP-C"
] |
gaucher:26842663 | Surgery for gastroesophageal reflux disease with Gaucher disease type 2. | [
"Gaucher disease, the most common lysosomal storage disease, is sometimes complicated with gastroesophageal reflux disease (GERD). The present patient was a 136-day-old Japanese boy with Gaucher disease type 2. Enzyme replacement therapy and chemical chaperone therapy were successful for the skin disorders, joint c... | [
"<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",
"gastroesophageal reflux disease (GERD)",
"Gaucher disease type 2",
"GERD",
"Gaucher disease"
] | null | [
"skin disorders",
"joint contractures",
"hepatosplenomegaly",
"GERD was improved"
] | [
"Enzyme replacement therapy",
"chemical chaperone therapy",
"Nissen fundoplication with gastrostomy",
"fundoplication",
"surgical fundoplication"
] | [
"Japanese"
] | [
"thrombocytopenia"
] | [
"no vulnerability of organs, easy bleeding or difficulty of maintaining the visual field because of hepatosplenomegaly during operation",
"no prolonged wound healing or infection"
] |
gaucher:26758318 | [Treatment of Gaucher disease with allogeneic hematopoietic stem cell transplantation: report of three cases and review of literatures]. | [
"To explore the efficacy of unrelated umbilical cord blood transplantation (UCBT) in the treatment of Gaucher disease.",
"The clinical characteristics of three children with Gaucher disease underwent UCBT in our hospital between April 2013 and September 2014 were retrospectively analyzed. Literature on allogeneic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To explore the efficacy 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 unrelated umbilical cord blood transplantation (UCBT)\n <span style=\"font-size... | [
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"prophylaxis of acute graft versus host disease (aGVHD)",
"cytomegalovirus (CMV) and Epstein-Barr virus (EBV) viremia",
"infected with varicella-zoster virus",
"cGVHD",
"Gaucher disease",
"Gaucher disease",
"Gaucher dise... | null | [
"rate of chimerism was over 95%",
"donor complete chimerism",
"died",
"death",
"size of liver was significantly reduced",
"died of infection",
"graft failure",
"late graft failure",
"late graft failure",
"bone pain",
"hepatomegaly",
"growth delay was improved"
] | [
"unrelated umbilical cord blood transplantation (UCBT)",
"UCBT",
"allogeneic hematopoietic stem cell transplantation (allo-HSCT)",
"received UCBT",
"second transplantation",
"received splenectomy before UCBT",
"pretreatment regimen was busulfan (Bu)/fludarabine (Flu)/cyclophosphamide (CTX)/antithymocyte... | [
"China"
] | [
"granulocytes exceeding 0.5 × 10⁹/L",
"platelets exceeding 20 × 10⁹/L",
"level of β-glucocerebrosidase recovered to normal",
"immune thrombocytopenia occurred",
"platelet in routine blood test recovered to normal",
"level of β-glucocerebrosidase ecovered",
"Glucocerebrosidase recovered to normal",
"en... | [
"unresponding to steroids",
"level of β-glucocerebrosidase was normal",
"chronic GVHD (cGVHD) was not found",
"level of β-glucocerebrosidase was normal",
"cGVHD was not found",
"free of disease",
"level of β-glucocerebrosidase was normal",
"free of disease",
"Disease-free"
] |
gaucher:26757299 | Lung Transplantation in Gaucher Disease: A Learning Lesson in Trying to Avoid Both Scylla and Charybdis. | [
"Gaucher disease (GD), a lysosomal storage disorder, may result in end-stage lung disease. We report successful bilateral lung transplantation in a 49-year-old woman with GD complicated by severe pulmonary hypertension and fibrotic changes in the lungs. Before receiving the lung transplant, the patient was undergoi... | [
"<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",
"end-stage lung disease",
"GD",
"GD",
"GD",
"GD"
] | null | [
"severe pulmonary hypertension",
"fibrotic changes in the lungs",
"severe bone disease",
"renal involvement",
"severe pulmonary involvement",
"severe potential posttransplantation complications"
] | [
"successful bilateral lung transplantation",
"receiving the lung transplant",
"undergoing both enzyme replacement therapy (imiglucerase) and triple pulmonary hypertension treatment (epoprostenol, bosentan, and sildenafil)",
"history of splenectomy",
"lung transplantation"
] | null | null | [
"relative contraindications for a lung transplantation"
] |
gaucher:26693402 | Bilateral Femoral Osteolytic Lesions in a Patient with Type 3 Gaucher Disease. | [
"Type 3 Gaucher disease (GD) manifests with hematologic, neurological and skeletal involvement including Erlenmeyer flask bone deformities, osteopenia, painful bone crises and fractures. We describe bilateral symmetric osteolytic lesions in a 22 year old with type 3 GD, chronically treated with enzyme replacement 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 Type 3 Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Type 3 Gaucher disease (GD)",
"type 3 GD",
"type 3 GD",
"GD"
] | null | [
"hematologic, neurological and skeletal involvement",
"Erlenmeyer flask bone deformities",
"osteopenia",
"painful bone crises",
"fractures",
"bilateral symmetric osteolytic lesions",
"atypical bone findings"
] | [
"chronically treated with enzyme replacement therapy"
] | null | null | null |
gaucher:26673565 | CD4+CD25 high Foxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis. | [
"Gaucher Disease (GD) is a rare autosomal recessive disorder caused by the deficient activity of beta-glucocerebrosidase. GD is one of the lysosomal storage diseases with the most remarkable alterations in the immune system, and that may manifest clinically as autoimmune disorders and malignancy. We reported the im... | [
"<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",
"lysosomal storage diseases",
"autoimmune disorders",
"malignancy",
"GD",
"lupus nephritis",
"GD",
"severe lupus nephritis",
"GD",
"autoimmunity"
] | [
"rare autosomal recessive disorder",
"Absence ofCD4(+)CD25(high)Foxp3(+) Treg"
] | [
"alterations in the immune system"
] | null | null | [
"deficient activity of beta-glucocerebrosidase",
"Decreased absolute values of T, and NK, and an inversion of CD4(+)/CD8(+) ratio",
"low levels of IgM",
"normal B cells",
"high levels of total NKT, iNKT cells and CD8(+) iNKT subsets",
"Treg subset and CD8(+) iNKT abnormalities"
] | [
"without lupus nephritis"
] |
gaucher:26646163 | Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions. | [
"Collodion membrane is most closely associated with forms of autosomal recessive congenital ichthyosis, but the differential diagnosis includes many other less common etiologies. Herein we present a case of Gaucher disease (GD) type 2 in a neonate presenting with collodion membrane in addition to blueberry muffin l... | [
"<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 Collodion membrane\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"autosomal recessive congenital ichthyosis",
"Gaucher disease (GD) type 2",
"GD"
] | null | [
"Collodion membrane",
"collodion membrane in addition to blueberry muffin lesions",
"collodion membrane and blueberry muffin lesions"
] | null | null | null | null |
gaucher:26459658 | Pleural tuberculosis in a patient with untreated type 1 Gaucher disease. | [
"Gaucher disease (GD) is an autosomal recessive glycolipid storage disorder, due to deficiency of the lysosomal enzyme glucocerebrosidase, leading to accumulation of the substrate glucocerebroside in the cells of the macrophage-monocyte system. Patients with GD have alteration in their immune system and impaired mi... | [
"<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)",
"glycolipid storage disorder",
"GD",
"Tuberculosis (TB)",
"Pleural TB",
"extra-pulmonary TB",
"TB",
"GD",
"Gaucher",
"pleural TB",
"GD1",
"pleural TB"
] | [
"autosomal recessive",
"heterozygous untreated GD1"
] | [
"splenomegaly",
"ipsilateral pulmonary fibrosis",
"Fever complaint was disappeared",
"fatigue",
"pain",
"clinical and hematological improvement"
] | [
"pleurectomy operation",
"4-drug combination anti-TB therapy was initiated including isoniazid, rifampicin, ethambutol and pyrazinamide",
"anti-TB treatment",
"initiation of enzyme replacement therapy in addition to anti-TB treatment"
] | null | [
"deficiency of the lysosomal enzyme glucocerebrosidase",
"alteration in their immune system",
"impaired microbicidal capacity of mononuclear phagocytes",
"monocyte dysfunction",
"plasma glucocerebrosidase concentrations",
"immune system",
"deficiency of glucocerebrosidase",
"Cytopenia(s)"
] | null |
gaucher:26376243 | [Splenomegaly and failure to thrive as a result of Gaucher disease]. | [
"Gaucher disease (GD) is the most common lysosomal storage disease with a prevalence of 1:75,000. The disease is caused by a defiency of the lysosomal enzyme glucocerebrosidase which leads to an accumulation of the substrate glycosylceramide within macrophages. GD presents with a wide spectrum of symptoms but invol... | [
"<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"
] | null | [
"involvement of the bones, bone marrow and spleen or liver",
"massive splenomegaly",
"poor growth",
"learning difficulties",
"extreme fatigue for several years"
] | null | null | [
"defiency of the lysosomal enzyme glucocerebrosidase",
"cytopenia"
] | null |
gaucher:26368548 | Synchronous Hepatoblastoma, Neuroblastoma, and Cutaneous Capillary Hemangiomas: A Case Report. | [
"Multiple synchronous tumors presenting in infancy raise concern for inherited or sporadic cancer predisposition syndromes, which include Beckwith-Wiedemann syndrome, familial adenomatous polyposis syndrome, and Li-Fraumeni syndrome. We report a case of a 7-month-old previously healthy male born following an in vit... | [
"<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 Multiple synchronous tumors\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"sporadic cancer predisposition syndromes",
"Beckwith-Wiedemann syndrome",
"familial adenomatous polyposis syndrome",
"Li-Fraumeni syndrome",
"GD-mediated cancer-associated",
"sporadic clinical syndrome"
] | [
"inherited"
] | [
"Multiple synchronous tumors",
"new-onset refractory shock",
"rapid decline over several hours",
"ruptured liver involved by hepatoblastoma",
"an adrenal gland involved by neuroblastoma",
"multiple cutaneous capillary hemangiomas",
"association of multiple synchronous tumors"
] | [
"following an in vitro fertilization-assisted twin pregnancy"
] | null | [
"severe acidosis"
] | [
"without evidence of other known cancer predisposition syndromes"
] |
gaucher:26327947 | Perinatal-lethal Gaucher disease presenting as hydrops fetalis. | [
"Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogrypos... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Perinatal-lethal Gaucher disease",
"type 2 Gaucher disease",
"perinatal-lethal Gaucher disease",
"non-immune hydrops fetalis",
"Gaucher's disease (type 2)"
] | null | [
"hepatosplenomegaly",
"ichthyosis",
"arthrogryposis",
"Hydrops Fetalis"
] | null | null | null | null |
gaucher:26166597 | Gaucher disease. Unusual presentation and mini-review. | [
"We aim to describe an 8-year-old boy with an unusual clinical presentation of Gaucher disease (GD). Gaucher disease is a progressive lysosomal storage disorder due to deficiency of the specific enzyme glucocerebrosidase with varying clinical features, but often involving the monocytes-macrophages systems. This chi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We aim to describe 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 8-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Gaucher disease (GD)",
"Gaucher disease",
"progressive lysosomal storage disorder",
"GD",
"Gaucher disease",
"GD",
"GD",
"Gaucher disease",
"chronic disease"
] | null | [
"devastating outcome",
"neurologic involvement"
] | [
"enzyme replacement treatment",
"substrate reduction therapy",
"bone marrow transplantation",
"blood transfusion",
"surgery"
] | null | [
"deficiency of the specific enzyme glucocerebrosidase"
] | null |
gaucher:26100396 | Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series. | [
"Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase. Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme replacement therapy can be delivered only by intravenous infusion every other week. The oral substrate reduction 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 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"mild or moderate Gaucher disease type 1",
"Gaucher disease type 1",
"Gaucher disease type 1",
"Gaucher disease type 1"
] | null | [
"Hematological disease parameters were stable",
"good tolerability",
"stable core disease parameters for approximately 4 years",
"peripheral neuropathy of as yet unknown origin"
] | [
"Treatment with enzyme replacement therapy",
"enzyme replacement therapy",
"intravenous infusion every other week",
"oral substrate reduction therapy miglustat (Zavesca®)",
"miglustat as a maintenance therapy",
"switched from previous enzyme replacement therapy",
"switched from long-term enzyme replacem... | [
"Caucasian"
] | [
"deficiency of the enzyme β-glucocerebrosidase"
] | [
"enzyme replacement therapy is unsuitable or not a therapeutic option",
"shortage of imiglucerase",
"allergic reactions to intravenous infusions"
] |
gaucher:26096746 | Understanding the natural history of Gaucher disease. | [
"Gaucher disease is a rare and extraordinarily heterogeneous inborn error of metabolism that exhibits diverse manifestations, a broad range of age of onset of symptoms, and a wide clinical spectrum of disease severity, from lethal disease during infancy to first age of onset of symptoms in octogenarians. Before 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"nonneuronopathic (type 1) disease",
"Gaucher disease",
"Gaucher disease"
] | [
"inborn error of metabolism"
] | [
"lethal disease"
] | null | null | null | null |
gaucher:25966100 | Case Report Serious pulmonary infection in a splenectomized patient with adult type 1 Gaucher disease. | [
"A 49-year-old man with a history of Gaucher disease type 1, resulting in serious splenomegaly and eating disorder, was referred to our department and underwent a splenectomy under general anesthesia. Gaucher disease is very rare, and its first signs are unexplained splenomegaly and hypersplenism. On preoperative e... | [
"<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 49-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher disease type 1",
"eating disorder",
"Gaucher disease",
"Gaucher disease type 1"
] | null | [
"serious splenomegaly",
"lung infection",
"acute respiratory distress syndrome with respiratory failure",
"postoperative lung infection",
"significantly prolonged and expensive hospital stay",
"immune dysfunction",
"post-traumatic stress",
"weaken patients' immunity",
"severe lung infections"
] | [
"splenectomy under general anesthesia",
"intubation and mechanical ventilation",
"discharged",
"receiving antibiotics and other treatments to enhance immunity",
"Anesthesia",
"surgery",
"gamma globulin and thymosin",
"early in the preoperative or postoperative period",
"enhance immunity"
] | null | [
"unexplained splenomegaly",
"hypersplenism",
"platelet count was slightly low"
] | [
"other test results were normal"
] |
gaucher:25859481 | Type 1 and type 3 Gaucher disease in two siblings in a family: 2 unusual case reports. | [
"Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. We 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 1 non-neuropathic and type 3 juvenile subacute neuropathic variant of adult Gaucher disease"
] | [
"autosomal recessive disorder"
] | null | null | [
"Ashkenazi Jews",
"India",
"India"
] | [
"lack of acid β-glucosidase (glucocerebrosidase) enzyme"
] | null |
gaucher:25717437 | Replacement Therapy for Gaucher Disease during Pregnancy: A Case Report. | [
"Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase enzyme. In this study, a case of enzyme-treated woman during her pregnancy was reported.",
"A 27-year old woman with type I Gaucher disease was managed for pregnancy until delivery. She underwent elective splenectomy at age 2... | [
"<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",
"type I Gaucher disease",
"pregnancy",
"type I Gaucher disease"
] | null | [
"mild hematological complications",
"pregnancy"
] | [
"enzyme-treated",
"pregnancy",
"managed for pregnancy",
"delivery",
"elective splenectomy",
"treated with 19-38 units/kg of imiglucerase",
"conservative approach",
"healthy male baby of 3180 g",
"cesarean section"
] | null | [
"deficiency of glucocerebrosidase enzyme"
] | [
"puerperium were uneventful"
] |
gaucher:25370695 | Gaucher disease with jawbone involvement: a case report. | [
"Gaucher disease is an autosomal recessive systemic condition, and the most common of the lysosomal storage disorders. It is characterized by lipid accumulation in certain cells and organs, particularly macrophages, which appear on light microscopy as 'Gaucher cells' or vacuolated lipid-laden reticuloendothelial ce... | [
"<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",
"systemic condition",
"lysosomal storage disorders",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"Lysosomal storage diseases",
"Gaucher disease",
"lysosomal storage disorders"
] | [
"autosomal recessive"
] | [
"Long bone involvement",
"craniofacial bone involvement",
"craniofacial bones",
"jawbone pain",
"lytic radiographic lesions of her mandible",
"jawbone involvement",
"head and neck manifestations",
"bone involvement",
"head and neck involvement of disease",
"painful jawbone lesions"
] | null | [
"Caucasian",
"Ashkenazi Jewish"
] | null | [
"odontogenic and non-odontogenic conditions"
] |
gaucher:25219293 | CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings. | [
"A Caucasian male with Gaucher disease type 3, treated with continuous enzyme therapy (ET) for 11 years, experienced progressive mesenteric and retroperitoneal lymphadenopathy, lung disease, and neurological involvement leading to death at an age of 12.5 years. Autopsy showed significant pathology of the brain, lym... | [
"<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 Caucasian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Gaucher disease type 3"
] | null | [
"progressive mesenteric and retroperitoneal lymphadenopathy",
"lung disease",
"neurological involvement",
"death",
"neurodegeneration",
"progressive disease involvement"
] | [
"treated with continuous enzyme therapy (ET) for 11 years",
"ET"
] | [
"Caucasian"
] | null | [
"Liver and spleen glucosylceramide (GluCer) and glucosylsphingosine (GluS) levels were nearly normal",
"despite ET"
] |
gaucher:25180747 | Imatinib as rescue therapy in a patient with pulmonary hypertension associated with Gaucher disease. | [
"Pulmonary hypertension (PH) is a known complication of Gaucher disease (GD) and splenectomy. Although it resembles World Health Organization (WHO) group 1 pulmonary arterial hypertension (PAH), PH due to GD or splenectomy is part of WHO group 5. There are no clinical trials testing therapies in PH due to GD or spl... | [
"<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 Pulmonary hypertension (PH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Pulmonary hypertension (PH)",
"Gaucher disease (GD)",
") group 1 pulmonary arterial hypertension (PAH)",
"PH",
"GD",
"PH",
"GD",
"PH due to GD",
"severe PAH",
"PH WHO group 5",
"GD",
"WHO group 5 PH"
] | null | [
"PH",
"significant subjective and objective improvements in response"
] | [
"splenectomy",
"splenectomy",
"splenectomy",
"PAH-specific therapies",
"tyrosine kinase inhibitor imatinib",
"splenectomy",
"imatinib was added to her treatment regimen",
"imatinib"
] | null | null | [
"while on conventional PAH-specific therapy"
] |
gaucher:24989669 | Arylsulphatase A activity in familial parkinsonism: a pathogenetic role? | [
"Cellular mechanism leading to Parkinson Disease (PD) is still unknown, but impairment of lysosomal degradation of aberrant proteins seems to play a crucial role. The most known lysosomal disease associated with PD is Gaucher Disease. However, actually a number of different lysosomal disorders have been linked with... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Cellular mechanism leading to \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 Disease (PD)\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Parkinson Disease (PD)",
"lysosomal disease",
"PD",
"Gaucher Disease",
"lysosomal disorders",
"PD",
"neurodegenerative disease"
] | null | [
"atypical signs and symptoms among the PD spectrum features",
"neurodegeneration"
] | null | null | [
"impairment of lysosomal degradation of aberrant proteins",
"Arylsulphatase A partial deficit",
"Arylsulphatase A",
"protein degradation",
"Arylsulphatase A partial deficit"
] | null |
gaucher:24974496 | Haemorrhagic pericardial effusion in type I Gaucher's disease. | [
"Gaucher's disease is a rare lysosomal storage disorder. Excess accumulation of glucosylceramide predominantly occurs in abdominal viscera. Cardiac involvement is rare, though they generally represent as restrictive cardiomyopathy and pericarditis. Our case, a 19-year old boy initially presented with hepatosplenome... | [
"<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 lysosomal storage disorder",
"pericarditis"
] | null | [
"Cardiac involvement",
"restrictive cardiomyopathy",
"hepatosplenomegaly",
"haemorrhagic pericardial effusion"
] | [
"Enzyme supplementation",
"managed symptomatically",
"pericardiocentesis"
] | null | null | null |
gaucher:24952923 | Extraosseous Gaucher cell deposition without adjacent bone involvement. | [
"Extraosseous Gaucher cell deposits are a rare complication of Gaucher disease that can mimic malignancy. We describe a case of Gaucher cell deposition in the subcutaneous soft tissues overlying the lower thoracic spine in an 18-year-old woman with known type III Gaucher disease. This case is unique in the literatu... | [
"<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 Extraosseous Gaucher cell deposits\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher disease",
"malignancy",
"type III Gaucher disease",
"Gaucher disease",
"malignancy",
"Gaucher disease"
] | null | [
"soft tissue masses",
"with or without adjacent bone involvement"
] | null | null | null | [
"not associated with extension from underlying bone involvement or clear lymph node origin",
"no discernible continuity with the adjacent thoracic spinous processes, the cortices of which appeared intact"
] |
gaucher:24947205 | Heterogeneous pattern of bone disease in adult type 1 Gaucher disease: clinical and pathological correlates. | [
"Gaucher disease (GD) is a lysosomal storage disorder characterized by accumulation of glucosylceramide in macrophages, so-called Gaucher cells, as a result of a deficiency of the lysosomal enzyme glucocerebrosidase. Bone complications are an important cause of morbidity of GD and are thought to result from imbalan... | [
"<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",
"GD",
"GD",
"type 1 GD",
"GD",
"GD",
"bone disease",
"GD"
] | null | [
"Bone complications",
"imbalance in bone remodeling",
"Bone manifestations",
"increased osteoclastic bone resorption",
"low bone formation",
"osteonecrosis",
"of bone disease",
"heterogeneous pattern of bone involvement",
"history of multiple bone complications",
"relatively low bone turnover",
... | [
"orthopedic surgery",
"embedded without prior decalcification in methylmethacrylate"
] | null | [
"deficiency of the lysosomal enzyme glucocerebrosidase"
] | [
"minimal bone turnover",
"No gross abnormalities in three biochemical markers of bone turnover (osteocalcin, N-terminal propeptide of type 1 procollagen and type 1 collagen C-terminal telopeptide) were noted"
] |
gaucher:24893724 | Painless transient bone marrow edema syndrome in a pediatric patient. | [
"Transient regional migratory osteoporosis, considered to be part of the spectrum of bone marrow edema syndrome, is a rare condition with an unknown etiology. Patients usually present with lower extremity pain, most commonly in the 4th-5th decades of life. We describe a 15-year-old male patient with type 1 Gaucher ... | [
"<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 Transient regional migratory osteoporosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"bone marrow edema syndrome",
"type 1 Gaucher disease",
"type 1 Gaucher disease",
"Gaucher disease",
"infection",
"osteonecrosis",
"bone marrow edema syndrome",
"bone marrow edema syndrome",
"Gaucher disease"
] | null | [
"Transient regional migratory osteoporosis",
"lower extremity pain",
"transient bone marrow edema syndrome",
"features most closely resembling regional migratory osteoporosis",
"bone marrow edema of the lateral tibial epiphysis of his right knee",
"complete resolution of the signal abnormality in the righ... | [
"enzyme replacement therapy",
"conservative measures"
] | null | null | [
"no pain",
"physical examination was normal"
] |
gaucher:24811560 | Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum. | [
"We describe a patient who presented with a neurovisceral syndrome characterised by ataxia, bulbar dysfunction, supranuclear gaze palsy, splenomegaly and foamy histiocytes in the bone marrow. This presentation was suggestive of a lysosomal storage disorder such as Niemann-Pick disease type C or Gaucher's disease ty... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a patient who presented with 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 neurovisceral syndrome\n <span style=\"font-size: 0.8em; font-w... | [
"neurovisceral syndrome",
"lysosomal storage disorder",
"Niemann-Pick disease type C",
"Gaucher's disease type 3"
] | null | [
"ataxia",
"bulbar dysfunction",
"supranuclear gaze palsy",
"splenomegaly"
] | [
"disease-modifying"
] | null | null | null |
gaucher:24801240 | Congenital dyserythropoietic anemia, type II with SEC23B exon 12 c.1385 A → G mutation, and pseudo-Gaucher cells in two siblings. | [
"Congenital dyserythropoietic anemia (CDA) represents a genotypically and phenotypically heterogeneous group of disorders. CDA type II, the most frequent variant, was recently shown to be caused by mutations in the gene encoding the secretory COPII component SEC23B. We report two siblings hailing from Punjab in nor... | [
"<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 Congenital dyserythropoietic anemia (CDA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Congenital dyserythropoietic anemia (CDA)",
"CDA type II",
"storage and metabolic disorders",
"CDA"
] | [
"homozygosity for c.1385 A → G; Y462C mutations"
] | [
"splenomegaly",
"progressive growth failure"
] | null | [
"Punjab",
"northern India"
] | [
"transfusion-dependent anemia",
"Hemoglobin was 71 g/l"
] | [
"no other family history",
"Extensive prior work-up for hemolytic anemia",
"infectious diseases was negative",
"normal leukocyte, platelet, and corrected reticulocyte counts",
"ring sideroblasts were absent",
"exclusion of other causes of dyserythropoiesis"
] |
gaucher:24749498 | Complex haemostatic abnormalities as a cause of bleeding after neurosurgery in a patient with Gaucher disease. | [
"We report a treatment-naïve patient with Gaucher disease (GD) who experienced repeated bleeding after three neurosurgeries for a brain tumour, identified as an oligoastrocytoma. The patient had normal values on basic haemostatic tests: prothrombin time, 75-105%; activated partial thromboplastin time, 30.3-34 s; an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 treatment-naïve\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Gaucher disease (GD)",
"brain tumour",
"oligoastrocytoma",
"GD",
"GD"
] | null | [
"repeated bleeding",
"Bleeding control"
] | [
"three neurosurgeries",
"vWF/FVIII concentrate and platelet transfusions",
"surgery",
"factor concentrates or platelet transfusions"
] | null | [
"mild von Willebrand factor (vWF) deficiency (vWF antigen, 56%; vWF ristocetin cofactor, 49%; factor VIII [FVIII], 54%)",
"abnormal collagen-mediated platelet aggregation (0.45-0.55)",
"assessing vWF and FVIII levels",
"Specific coagulation factors or platelet function deficiencies"
] | [
"treatment-naïve",
"normal values on basic haemostatic tests: prothrombin time, 75-105%; activated partial thromboplastin time, 30.3-34 s"
] |
gaucher:24671628 | Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement. | [
"Gaucher's disease is a lysosomal storage disorder caused by the deficiency of glucocerebrosidase. Gaucher's disease has three clinical types: non-neuronopathic (Type 1), Acute Neuropathic (Type 2) and chronic neuronopathic (Type 3). The chronic neuronopathic (Type 3) is characterised by a variety of disease varian... | [
"<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 disorder",
"Gaucher's disease",
"non-neuronopathic (Type 1)",
"Acute Neuropathic (Type 2)",
"chronic neuronopathic (Type 3)",
"chronic neuronopathic (Type 3)"
] | null | [
"hepatomegaly",
"skeletal lesions",
"later slow horizontal saccades",
"dementia",
"progressive spasticity",
"cognitive deterioration",
"ataxia",
"death",
"treatment-refractory seizures",
"myoclonus",
"oculomotor apraxia",
"ataxia",
"cognitive decline",
"features suggestive of progressive m... | null | null | [
"deficiency of glucocerebrosidase",
"Enzyme activity of beta-glucocerebrosidase was found to be low"
] | [
"treatment-resistant generalised tonic-clonic and myoclonic seizures",
"without visceromegaly or bone involvement"
] |
gaucher:24614394 | Cholelithiasis in a patient with type 2 Gaucher disease. | [
"Gaucher disease is an autosomal recessively inherited lysosomal storage disease in which a deficiency of glucocerebrosidase is associated with the accumulation of glucocerebroside in reticuloendothelial cells. Clinically, 3 types of Gaucher disease have been defined on the basis of the presence or absence of neuro... | [
"<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",
"type 1 Gaucher disease",
"type 2 Gaucher disease"
] | [
"autosomal recessively inherited"
] | [
"neurological symptoms",
"gallbladder involvement",
"recurrent cholelithiasis",
"liver failure",
"severe progressive neurological involvement"
] | null | null | [
"deficiency of glucocerebrosidase"
] | null |
gaucher:24588495 | Oral health of a child being treated for subtype I Gaucher's disease. | [
"Gaucher disease (GD) is an autosomal recessive disorder characterized by the absence of glucosylceramidase. The accumulation of substrates of this enzyme in the cytoplasm of cells of the phagocytary system causes skeletal and hematologic disorders, and has oral repercussions. This report describes the findings 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 (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"subtype I GD",
"GD",
"GD"
] | [
"autosomal recessive disorder"
] | [
"skeletal and hematologic disorders",
"oral repercussions",
"oral manifestations"
] | [
"receiving enzyme replacement therapy for the past 6 years",
"continuous treatment"
] | null | [
"absence of glucosylceramidase"
] | [
"without interruption",
"none of the most common oral disease signs and symptoms"
] |
gaucher:24575292 | Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report. | [
"Gaucher's Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher's Disease .G.D... | [
"<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 (G.D.)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Gaucher's Disease (G.D.)",
"Gaucher's Disease",
"lipid storage disease",
"G.D.",
"Gaucher's disease",
"G.D.",
"G.D."
] | [
"autosomal recessive disorder",
"enzyme is encoded by a gene on chromosome-1"
] | [
"weakness",
"pallor",
"gradually increasing abdominal girth",
"unexplained splenomegaly"
] | null | [
"Yazd"
] | [
"deficiency in lysosomal glucocerebrosidase",
"measurement of glucocerebrosidase level"
] | null |
gaucher:24566400 | Focal splenic FDG uptake in a patient with Kala-Azar (visceral leishmaniasis). | [
"We present a woman with a history of Gaucher disease and secondary portal hypertension. She went to hospital for treatment of resistant fever without apparent cause. A conventional study of fever of unknown origin did not show any pathology. For this reason, she was referred to our department for a PET/CT, which d... | [
"<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 woman\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease"
] | null | [
"secondary portal hypertension",
"resistant fever",
"fever recurrence",
"infection"
] | [
"Splenectomy"
] | null | null | [
"without apparent cause",
"conventional study of fever of unknown origin",
"did not show any pathology",
"did not demonstrate a cause for the fever"
] |
gaucher:24485911 | A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity. | [
"Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. This gene is involved in lysosomal mannose-6-phosphate-independent trafficking of β-glucocerebrosidase (GC), an enzyme deficient in Gaucher disease. We rep... | [
"<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 Action myoclonus renal failure (AMRF) syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Action myoclonus renal failure (AMRF) syndrome",
"Gaucher disease",
"AMRF",
"AMRF"
] | [
"mutations in the SCARB2 gene",
"novel SCARB2 mutation"
] | [
"progressive myoclonus epilepsy",
"renal dysfunction",
"ataxia",
"skeletal muscle atrophy"
] | null | null | [
"lysosomal mannose-6-phosphate-independent trafficking of β-glucocerebrosidase (GC)",
"enzyme deficient in Gaucher disease",
"striking discrepancy between lymphocyte and fibroblast GC activity",
"low GC activity"
] | [
"without cognitive impairment",
"overt renal disease"
] |
gaucher:24482953 | Adult type 3 Gaucher disease as manifestation of R463C/Rec Nci I mutation: first reported case in the world literature. | [
"Gaucher disease is the most common lysosomal storage disorder. It is autosomal recessive in nature and results from mutations in the GBA gene coding for acid beta glucosidase. It is classified into three types based on CNS involvement and its severity. Type 3, or chronic neuronopathic Gaucher disease, generally ha... | [
"<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",
"Type 3",
"chronic neuronopathic Gaucher disease",
"type 3b Gaucher disease",
"Type 3 Gaucher disease",
"Type 3 Gaucher disease"
] | [
"autosomal recessive in nature",
"mutations in the GBA gene coding for acid beta glucosidase",
"R463C/Rec Nci I mutation"
] | [
"CNS involvement",
"any form of neurologic involvement",
"hip pain",
"bilateral avascular necrosis of femoral head",
"massive splenomegaly",
"mental retardation",
"seizures",
"bilateral vertical and horizontal gaze palsies"
] | null | [
"India"
] | null | null |
gaucher:24434810 | Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S. | [
"Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from deficient glucocerebrosidase activity. There have been nearly 300 mutations described to date. Novel mutations can potentially provide insight into the biochemical basis of the disease. Two novel mutations are described in two Type... | [
"<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",
"Type 1 Gaucher"
] | [
"autosomal recessive",
"N370S compound heterozygosity",
"point mutation that causes an amino acid substitution at cysteine residue 23 for tryptophan",
"second point mutation within the splicing element at the 3' end of intron 7",
"mutations affecting cysteine residues involved in disulfide bridges",
"muta... | null | null | null | [
"deficient glucocerebrosidase activity",
"enzyme activity"
] | null |
gaucher:24426351 | A Rare Case of Hemoglobin E Hemoglobinopathy with Gaucher's Disease. | [
"Hemoglobin (Hb) E mutation is common in north-east part of our country. The natural history of Hb E thalassemia is highly variable. The phenotype, for patients with similar mutations, can range from asymptomatic to transfusion dependent. Our patient presented at 2 years of age with failure to thrive and hepatosple... | [
"<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 Hemoglobin (Hb) E mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Hb E thalassemia",
"leukemia",
"multiple myeloma",
"thalassemia",
"mycobacterial infections",
"Co-existence of Gaucher's disease with Hb E mutation"
] | [
"Hemoglobin (Hb) E mutation",
"Hb E homozygous"
] | [
"failure to thrive",
"hepatosplenomegaly"
] | [
"Therapeutic splenectomy"
] | null | [
"transfusion dependent",
"β-Glucocerebrosidase levels were low"
] | [
"asymptomatic",
"normal β-glucocerebrosidase"
] |
gaucher:24412634 | Pathological fracture and pyogenic osteomyelitis in a patient with type 2 Gaucher disease. | [
"In Gaucher disease (GD), enzyme replacement therapy (ERT) results in the alleviation of hematological abnormalities and visceral infiltration as well as improvement in quality of life and life-span. However, several years may be required for skeletal manifestations, which are usually observed in type 1 and 3 GD, t... | [
"<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 Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Gaucher disease (GD)",
"type 1 and 3 GD",
"type 2 GD",
"treated GD",
"type 2 GD",
"valproate-induced Fanconi syndrome",
"skeletal disease",
"GD",
"Fanconi syndrome",
"GD"
] | null | [
"alleviation of hematological abnormalities",
"visceral infiltration",
"improvement in quality of life",
"skeletal manifestations",
"skeletal manifestations",
"skeletal involvement",
"pathological fractures",
"pyogenic osteomyelitis",
"severe skeletal complications"
] | [
"enzyme replacement therapy (ERT)",
"ERT",
"ERT",
"ERT"
] | null | null | null |
gaucher:24398657 | Peripheral autonomic nervous system involvement in Gaucher-related parkinsonism. | [
"The pathological process affects the peripheral autonomic nervous system in the vast majority of sporadic PD patients. Recent reports have shown that patients with a familial form of the disease caused by mutation of the gene encoding LRRK2 and alpha-synuclein also display autonomic abnormalities, especially cardi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The pathological process \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n affects the peripheral autonomic nervous system\n <span style=\"font-size: 0.8em;... | [
"sporadic PD",
"Gaucher disease-associated parkinsonism",
"Gaucher-associated Parkinsonism"
] | [
"familial form of the disease",
"mutation of the gene encoding LRRK2 and alpha-synuclein"
] | [
"affects the peripheral autonomic nervous system",
"autonomic abnormalities",
"cardiac sympathetic denervation",
"involvement of the peripheral autonomic system",
"cardiac denervation"
] | null | null | null | null |
gaucher:24300021 | Middle-ear involvement in type I Gaucher's disease - a unique case. | [
"Gaucher's disease is a rare autosomal recessive lysosomal storage disease. We describe a unique case of middle-ear involvement presenting with hearing loss.",
"A five-year-old boy with known Gaucher's disease presented with bilateral hearing impairment and conductive hearing loss on pure tone audiometry with fla... | [
"<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",
"Gaucher's disease",
"Gaucher's disease affecting the middle ear and the mastoid"
] | [
"rare autosomal recessive"
] | [
"middle-ear involvement",
"hearing loss",
"bilateral hearing impairment",
"conductive hearing loss",
"flat tympanometry traces"
] | [
"Exploratory Tympanomastoidectomy"
] | null | null | null |
gaucher:24275154 | Acquired von Willebrand syndrome in patients with Gaucher disease. | [
"Although various coagulation abnormalities occur in patients with Gaucher disease (GD), von Willebrand factor (vWF) deficiency has rarely been reported. A retrospective review of six treatment naïve cases with GD and concomitant vWF deficiency over a 12-year-period in a single center is presented. All patients had... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although various \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n coagulation abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Gaucher disease (GD)",
"GD",
"type 1 von Willebrand disease",
"acquired",
"GD"
] | null | [
"personal history of prior hemorrhages"
] | [
"treatment naïve",
"enzyme replacement therapy (ERT) of a 2-year duration"
] | null | [
"coagulation abnormalities",
"von Willebrand factor (vWF) deficiency",
"concomitant vWF deficiency",
"reduced level of vWF antigen (vWF:Ag, range 14-56%) and ristocetin cofactor activity (vWF:RCo, range 12-53%)",
"vWF:RCo/Ag ratio >0.7",
"normalized their vWF:Ag levels",
"positive ERT effect on vWF:Ag l... | null |
gaucher:24195576 | Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease. | [
"The clinical presentation of Gaucher disease (GD), an inherited lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase, is highly variable, and three clinical types are distinguished based upon the presence of neurologic symptoms. Thrombocytopenia, anemia, hepatosple... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The clinical presentation 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; lin... | [
"Gaucher disease (GD)",
"lysosomal storage disorder",
"GD type 1 (GD1)",
"recurrent pulmonary aspergillosis caused by Aspergillus fumigatus",
"mycobacterial infection caused by Mycobacterium avium",
"GD",
"GD",
"pulmonary aspergillosis and mycobacterial infection",
"GD",
"opportunistic pulmonary i... | [
"inherited",
"heterozygous GD1",
"mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene"
] | [
"neurologic symptoms",
"hepatosplenomegaly",
"bone manifestations",
"Symptomatic lung involvement",
"increased susceptibility to pulmonary infections"
] | [
"unsplenectomized",
"triple therapy with rifampicin, ethambutol, and clarithromycin)"
] | null | [
"deficient activity of the lysosomal enzyme glucocerebrosidase",
"Thrombocytopenia",
"anemia"
] | [
"Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection",
"ineffective eradication of these infections",
"despite adequate therapy"
] |
gaucher:24035292 | Parkinsonism syndrome in heterozygotes for Niemann-Pick C1. | [
"Niemann-Pick C (NPC) disease is a rare autosomal recessive lipid storage disorder. We report here the unique occurrence of three adult heterozygous carriers of mutations in the NPC1 gene who also have a parkinsonism syndrome. This suggests the possibility that mutations in NPC1 could be a risk factor for Parkinson... | [
"<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 C (NPC) disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Niemann-Pick C (NPC) disease",
"lipid storage disorder",
"parkinsonism syndrome",
"Parkinson's disease",
"Gaucher disease"
] | [
"rare autosomal recessive",
"heterozygous carriers of mutations in the NPC1 gene",
"mutations in NPC1"
] | null | null | null | [
"glucocerebrosidase"
] | null |
gaucher:24019767 | A case of adult type 1 Gaucher disease complicated by temporal intestinal hemorrhage. | [
"A 21-year-old man with a history of sudden rectal hemorrhage was referred to our hospital. Examination disclosed thrombocytopenia and hepatosplenomegaly. A liver biopsy specimen demonstrated Gaucher cells in Glisson's capsule. Additional investigations revealed a low level of leukocyte β-glucosidase activity and c... | [
"<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 21-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher disease type 1",
"adult Gaucher disease"
] | null | [
"sudden rectal hemorrhage",
"hepatosplenomegaly",
"hepatosplenomegaly"
] | [
"enzyme replacement therapy"
] | null | [
"thrombocytopenia",
"low level of leukocyte β-glucosidase activity",
"Thrombocytopenia",
"cryptogenic thrombocytopenia"
] | null |
gaucher:23997081 | Gaucher disease with pathological femoral neck fracture. | [
"Fractures of the femoral neck are rare and usually result from serious and high-energy trauma in the skeleton in young adults. Gaucher's disease (GD) is a lysosomal storage disorder that has progressive course and is rarely seen. Research has shown that a pathological femoral neck fracture with GD mostly emerges i... | [
"<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 Fractures of the femoral neck\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Gaucher's disease (GD)",
"lysosomal storage disorder",
"GD",
"GD",
"GD"
] | null | [
"Fractures of the femoral neck",
"serious and high-energy trauma in the skeleton",
"pathological femoral neck fracture",
"pathological femoral neck fractures",
"pathological femoral neck fracture"
] | null | null | [
"thrombocytopaenia"
] | [
"did not undergo surgery because of haematological problems"
] |
gaucher:23883467 | [Neuropathic Gaucher disease treated with long enzyme replacement therapy. Two clinical cases]. | [
"Gaucher disease (GD) is the most common of all inherited lipid storage diseases. It is an autosomal recessive disorder portraying catabolism and cerebroside deposit in the lysosomes, which is due to a lack of glucocerebrosidase enzyme. Though GD shows a panethnic pattern of presentation, it particularly affects th... | [
"<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",
"Instituto Mexicano del Seguro"
] | [
"inherited lipid storage diseases",
"autosomal recessive disorder",
"L444P--most common mutation for neuropathic GD--188S, V394L and G377S)",
"type 3 GD mutations"
] | [
"neurologic affection",
"multiorganic affection",
"reversing organic damage related to GD",
"stop neurologic affection",
"neurological features"
] | [
"Enzyme replacement therapy (ERT)",
"ERT",
"general zone hospitals"
] | [
"Ashkenazi Jewish",
"Mexican"
] | [
"lack of glucocerebrosidase enzyme"
] | null |
gaucher:23789017 | An unusual presentation of Gaucher disease in an infant with progressive dyspnea. | [
"The most common lysosomal storage disorder, Gaucher disease, represents a collection of 3 clinical syndromes associated with disrupted glucocerebroside catabolism. Despite the common occurrence of dyspnea in advanced Gaucher, dyspnea is rarely reported as a presenting symptom of the disease.",
"A 10-month-old ma... | [
"<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",
"advanced Gaucher",
"Gaucher disease",
"Gaucher disease"
] | null | [
"dyspnea",
"dyspnea",
"progressive dyspnea",
"cervical adenopathy",
"inspiratory stridor",
"developmental delay",
"failure to thrive",
"lymphadenopathy",
"failure to thrive",
"generalized lymphadenopathy",
"respiratory or neurologic findings",
"irreversible disease"
] | [
"early treatment"
] | null | [
"disrupted glucocerebroside catabolism"
] | null |
gaucher:23763225 | Non-specific symptomatogy presenting in a patient with Gaucher's disease creating a challenging diagnosis: a case report. | [
"Gaucher's disease is the most common of the lysosomal storage diseases; however, with a current worldwide incidence of 1/75,000, it is still a rare occurrence. We present a case of Gaucher's disease type 1 in a Hispanic patient, the first incidence of this specific subtype of Gaucher's disease to be reported in Pu... | [
"<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 diseases",
"Gaucher's disease type 1",
"subtype of Gaucher's disease",
"Gaucher's disease"
] | null | null | null | [
"Hispanic",
"Puerto Rico"
] | null | [
"negative initial bone marrow biopsy"
] |
gaucher:23715368 | A case of Gaucher's disease progressing to liver cirrhosis. | [
"We are going to present a 17 year old female with Gaucher's disease. The patient presented with fever, cough, respiratory distress & abdominal heaviness. There was mild pallor, redness of palm of hands & raised temperature. Liver was hugely enlarged along with splenomegaly. X-ray chest showed non specific bronchie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We are going to 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 17 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Gaucher's disease",
"lipid storage disease"
] | null | [
"fever",
"cough",
"respiratory distress",
"abdominal heaviness",
"mild pallor",
"redness of palm of hands",
"raised temperature",
"Liver was hugely enlarged",
"splenomegaly",
"non specific bronchiectatic change in both lungs",
"marked hepatosplenomegaly"
] | [
"conservative treatment with antibiotic cefuroxime, syrup lactulose & vitamins"
] | null | null | [
"no ascites"
] |
gaucher:23635853 | Corneal manifestations and in vivo confocal microscopy of Gaucher disease. | [
"To report corneal abnormalities and confocal microscopy findings in a patient with a variant of Gaucher disease (GD).",
"Case report with slit-lamp photography, confocal microscopy, and molecular analysis of the glucocerebrosidase gene.",
"Ophthalmic evaluation in a 57-year-old white patient demonstrated corne... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n corneal abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"variant of Gaucher disease (GD)",
"GD",
"GD"
] | [
"heterozygous F216Y/L444P mutation",
"unusual mutation responsible for his GD",
"D409H homozygous cardiovascular subtype"
] | [
"corneal abnormalities",
"corneal opacities scattered throughout the cornea",
"completely distorted stromal architecture",
"corneal abnormalities",
"abnormal visual acuity",
"increased central corneal thickness",
"subclinical abnormalities",
"corneal opacities",
"marked corneal stromal abnormalities... | null | [
"white"
] | null | [
"otherwise normal corneas"
] |
gaucher:23594419 | Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature. | [
"Gaucher disease is an autosomal, recessively inherited, lysosomal storage disease, which has been associated with gammopathies and malignancies. This report represents the results of a systematic review of the literature on the prevalence of monoclonal gammopathies and malignancies in Gaucher disease. A PubMed sea... | [
"<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",
"gammopathies",
"malignancies",
"monoclonal gammopathies",
"malignancies",
"Gaucher disease",
"concomitant Gaucher disease and malignancies and/or gammopathies",
"Gaucher",
"cancer",
"multiple myeloma",
"haematological malignancies",
"hepatocel... | [
"autosomal, recessively inherited",
"genetic modifiers"
] | [
"immune dysregulation",
"endoplasmic reticulum stress",
"altered iron metabolism",
"insulin resistance"
] | [
"splenectomy"
] | null | null | null |
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