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:23578492 | [Pregnancy in Gaucher disease]. | [
"Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase. The association with pregnancy exposes the worsening of the disease and complications of pregnancy and puerperium. We report a case of pregnancy in a woman of 35 years, suffering from Gaucher disease type 1. Pregnancy had a fa... | [
"<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",
"pregnancy",
"pregnancy",
"Gaucher disease type 1",
"pregnancy"
] | null | [
"complications of pregnancy",
"puerperium",
"Pregnancy",
"Complications",
"inbreeding"
] | [
"breastfeeding",
"preconception consultation",
"Genetic counseling"
] | null | [
"deficiency of glucocerebrosidase"
] | null |
gaucher:23430813 | Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment. | [
"There are three recombinant enzymes available for the treatment of Gaucher disease (GD): imiglucerase, velaglucerase alfa, and taliglucerase alfa.",
"A male GD type III patient, 14 years old, genotype p.L444P/L444, diagnosed at 2 years old. He had been treated with imiglucerase for 9 years since the diagnosis. I... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are 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 recombinant enzymes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"GD type III",
"GD type III",
"GD",
"GD"
] | [
"genotype p.L444P/L444"
] | [
"severe adverse reaction to imiglucerase",
"cough",
"laryngeal stridor",
"periorbital edema",
"new adverse reaction",
"vomiting",
"tachypnea",
"cough",
"periorbital edema",
"significant worsening of the clinical picture",
"moderate adverse reaction",
"improvement of clinical and laboratory par... | [
"recombinant enzymes",
"imiglucerase, velaglucerase alfa",
"taliglucerase alfa",
"treated with imiglucerase for 9 years",
"infusions were suspended for 3 months",
"imiglucerase was restarted with premedication and a slower infusion rate",
"2 years and 10 months",
"taliglucerase alfa was prescribed, wi... | null | [
"IgE-mediated reaction"
] | [
"serological tests were negative",
"no specific treatment",
"without premedication"
] |
gaucher:23265852 | Jaws features in Type 1 Gaucher disease. | [
"Our aims were to present 2 new cases of Gaucher disease involving the jaws and to review the literature.",
"Two new cases and the literature from 1982-2011 were reviewed.",
"Ten articles describing 35 cases (for a total of 37 with 2 new cases presented) were analyzed. The mandible and maxilla were affected in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Our aims were to present 2 new cases 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 involving the jaws\n <span style=\"font-size: 0.8e... | [
"Gaucher disease involving the jaws"
] | null | [
"Generalized rarefaction of bone (osteopenia)",
"well-defined radiolucent lesions",
"effects on the surrounding structures",
"loss of cortication of the mandibular canal",
"cortical bone thinning",
"expansion, root resorption",
"mandibular canal displacement",
"cortical perforation",
"maxillary sinu... | null | null | null | null |
gaucher:23222326 | Minimal intervention dentistry: part 4. Detection and diagnosis of initial caries lesions. | [
"The detection of carious lesions is focused on the identification of early mineral changes to allow the demineralisation process to be managed by non-invasive interventions. The methods recommended for clinical diagnosis of initial carious lesions are discussed and illustrated. These include the early detection of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The detection 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 carious lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | null | null | [
"carious lesions",
"early mineral changes",
"demineralisation",
"initial carious lesions",
"early lesions"
] | [
"non-invasive interventions"
] | null | null | [
"reduce reliance on restorative measures"
] |
gaucher:23041471 | Idiopathic avascular necrosis of the femoral heads in five members of a Moroccan family. | [
"Avascular necrosis (AVN) is idiopathic in about 40% of cases. The pathophysiology of avascular necrosis remains incompletely elucidated. Here, we report a case that underlines the role for inherited factors in AVN of the femoral heads. Idiopathic AVN of the femoral heads occurred in five members of the same family... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Avascular necrosis (AVN)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Avascular necrosis (AVN)",
"idiopathic",
"avascular necrosis",
"AVN of the femoral heads",
"Idiopathic AVN of the femoral heads",
"Arlet and Ficat stage 4 AVN",
"stage 3",
"familial AVN of the femoral head",
"sickle cell anemia",
"Gaucher disease",
"idiopathic familial AVN of the femoral heads"... | [
"inherited factors"
] | [
"isolated bilateral AVN of the femoral heads"
] | null | [
"Taiwan"
] | null | [
"None",
"had a history of glucocorticoid therapy, alcohol abuse",
"or trauma",
"The results were normal or negative",
"ruling out known hereditary causes of AVN such as sickle cell anemia and Gaucher disease",
"without AVN at other sites"
] |
gaucher:23040615 | Recent trends in human Brucella canis infection. | [
"There is little information in the literature regarding the clinical progress of brucellosis in patients affected by other diseases. We report Brucella canis human infection link to Gaucher's disease and Guillain Barré syndrome and discuss complications observed in a case with infective endocarditis. The three cas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There is little information in the literature regarding the clinical progress 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 brucellosis\n <span style... | [
"brucellosis",
"Brucella canis human infection",
"Gaucher's disease",
"Guillain Barré syndrome",
"infective endocarditis",
"B. canis"
] | null | [
"socio-economic deprivation"
] | null | null | null | null |
gaucher:23018845 | Successful desensitization to imiglucerase of an adult patient diagnosed with type I Gaucher disease. | [
"Gaucher disease is the most common lysosomal storage disorder, and enzyme replacement therapy, such as administration of imiglucerase, is the standard therapy. Anaphylaxis to imiglucerase is rarely reported. Here, we report a 26-year-old female who was diagnosed with type 1 Gaucher disease and referred to our Alle... | [
"<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 disease",
"chronic disease"
] | null | [
"anaphylactic reaction"
] | [
"enzyme replacement therapy, such as administration of imiglucerase",
"imiglucerase enzyme therapy",
"desensitization protocol",
"by intravenous infusion in an intensive care setting",
"the total final dose of 2,000 U was successfully administered",
"successful desensitization to imiglucerase",
"Desensi... | null | null | [
"Anaphylaxis to imiglucerase",
"No reactions occurred during the procedure",
"no alternative therapies"
] |
gaucher:22991067 | Fast protocol for the diagnosis of lysosomal diseases in nonimmune hydrops fetalis. | [
"Nonimmune hydrops fetalis (NIHF) is defined by the excessive fluid accumulation in more than one foetal compartments and body cavities because of nonimmune reasons. It has been described that 14 lysosomal diseases may be causative of NIHF. The aim of this study was to design a fast protocol to investigate the most... | [
"<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 Nonimmune hydrops fetalis (NIHF)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Nonimmune hydrops fetalis (NIHF)",
"lysosomal diseases",
"NIHF",
"lysosomal diseases",
"NIHF",
"NIHF",
"NIHF",
"lysosomal diseases",
"mucopolysaccharidosis type VII",
"Gaucher disease",
"lysosomal pathologies",
"NIHF",
"lysosomal diseases",
"NIHF"
] | null | null | null | null | [
"analysed the glycosaminoglycans excretion in the amniotic fluid supernatant"
] | [
"nonimmune reasons",
"without need of too much amniotic fluid"
] |
gaucher:22964618 | Simultaneous detection of Gaucher's disease and renal involvement of non-Hodgkin's lymphoma: the first Asian case report and a review of literature. | [
"Gaucher's disease (GD) is a rare autosomal recessive (AR) disorder characterized by a deficiency of glucocerebrosidase (glucosylceramidase, acid β-glucosidase). This enzyme deficiency results in an accumulation of sphingolipids in the cells of GD patients, which may contribute to the dysregulation of the immune sy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher's disease (GD)",
"cancer",
"hematologic malignancies",
"GD",
"hematologic malignancies",
"GD",
"non-Hodgkin's lymphoma",
"diffuse large B-cell lymphoma (DLBCL)",
"GD",
"concurrent GD and lymphoma",
"type 1 GD",
"GD",
"lymphoma",
"GD",
"neuropathic",
"type 1 GD patient associat... | [
"rare autosomal recessive (AR) disorder",
"two heterozygote mutations, G202R (c.721G>A; p.G241R), a known pathogenic mutation, and a novel mutation R277C (c.946C>T; p.R316C)",
"G202R gene mutation",
"G202R mutation"
] | [
"kidney involvement"
] | null | [
"Asian",
"Korea"
] | [
"deficiency of glucocerebrosidase (glucosylceramidase, acid β-glucosidase)",
"enzyme deficiency",
"dysregulation of the immune system",
"B-cell dysfunction",
"expression of specific cytokines such as interleukin (IL) -1, IL-6, IL-8, IL-10, and tumor necrosis factor (TNF)"
] | null |
gaucher:22950450 | Analysis of the pre-retinal opacities in Gaucher Disease using spectral domain optical coherent tomography. | [
"Fundal opacities have been reported in patients with Gaucher disease, a rare autosomal recessive lysosomal storage disease, prior to the advent of optical coherent tomography. This report provides a detailed analysis of the fundal opacities in a 14-year-old girl with genetically proven Gaucher disease using spectr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fundal opacities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Gaucher disease",
"lysosomal storage disease",
"Gaucher disease"
] | [
"rare autosomal recessive"
] | [
"Fundal opacities",
"fundal opacities",
"opacities",
"pre-retinal opacities located at the vitreo-retinal interface associated with localized posterior vitreous detachments",
"vitreous opacities"
] | null | null | null | null |
gaucher:22914966 | Tracheal involvement in ulcerative colitis: clinical presentation and potential interest of 2-deoxy-2[¹⁸F]fluoro-D-glucose positron emission tomography (¹⁸F-FDG PET) for the management. | [
"Ulcerative colitis (UC) is an inflammatory bowel disease that can on rare occasions affect the respiratory tract. We report the case of a 32-year-old woman suffering from UC, for whom 2-deoxy-2[(18)F]fluoro-D-glucose positron emission tomography ((18)F-FDG PET) was useful, both for diagnosis and management of trac... | [
"<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 Ulcerative colitis (UC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Ulcerative colitis (UC)",
"inflammatory bowel disease",
"UC",
"of UC",
"of UC",
"of UC"
] | null | [
"affect the respiratory tract",
"tracheal involvement",
"severe cough",
"fever",
"inflammation of the trachea",
"only a moderately increased uptake on the posterior wall of the trachea",
"symptoms improved",
"significant reduction of the local inflammation",
"tracheal involvement",
"digestive invo... | [
"Systemic corticosteroids"
] | null | null | [
"Infection, vasculitis and relapsing chondritis were first ruled out",
"Lymphoma",
"non-specific inflammation",
"did not reveal the previous abnormal tracheal (18)F-FDG uptake"
] |
gaucher:22914376 | Gaucher's disease: rare presentation of a rare disease. | [
"Gaucher's disease is a rare lysosymal storage disorder characterized by deposition of glucocerebroside in cells of the macrophage monocyte system. Gaucher's disease has 3 types-non-neuronopathic (type I), acute neuronopathic (type II), and chronic neuronopathic (type III). It generally presents with delayed milest... | [
"<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 lysosymal storage disorder",
"Gaucher's disease",
"non-neuronopathic (type I)",
"acute neuronopathic (type II)",
"chronic neuronopathic (type III)",
"acute neuronoapthic variety",
"acute neuronopathic variety of Gaucher's disease"
] | null | [
"delayed milestones",
"seizures",
"bony deformities",
"massive organomegaly",
"neurological features",
"only abnormal head position"
] | null | null | null | null |
gaucher:22899750 | Abundant hepatic Gaucher-like cells following chemotherapy and bone marrow transplantation for hematologic malignancy: report of two cases. | [
"Cells with a resemblance to Gaucher cells, sometimes called pseudo-Gaucher cells, are seen in the bone marrow of some patients with hematologic malignancy or anemia. These cells are derived from cells of the monocytic lineage but do not show the characteristic inclusions of true Gaucher cells when examined by elec... | [
"<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 Cells with a resemblance to Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"hematologic malignancy",
"anemia",
"hematologic malignancy"
] | null | null | [
"chemotherapy and bone marrow transplant",
"bone marrow transplant"
] | null | null | [
"do not show the characteristic inclusions of true Gaucher cells"
] |
gaucher:22772462 | Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease. | [
"Gaucher's disease is caused by a deficiency of glucocerebrosidase (GBA) and results in the accumulation of glucocerebroside within macrophages. We report on a 33(+2) gestational week premature infant whose family history was significant for a previously undiagnosed premature sibling with similar clinical features,... | [
"<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 type 2"
] | [
"heterozygous condition for the novel deletion mutation at GBA cDNA nucleotide position 630 resulting in the frameshift (Pro171fsX21) in exon 6 and a G→A transition mutation at GBA cDNA nucleotide position 887 (Arg257Gln) in exon 7."
] | [
"severe hydrops fetalis",
"hepatosplenomegaly",
"skin lesions at birth",
"death"
] | null | null | [
"deficiency of glucocerebrosidase (GBA)"
] | null |
gaucher:22713811 | A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. | [
"Gaucher disease (GD) is an autosomal recessive storage disorder that most commonly results from the inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from each parent. Here, we report two cases of type 2 GD resulting from the inheritance of one identifiable paternal mutant allele and one alle... | [
"<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 recessive storage disorder",
"type 2 GD",
"GD",
"recessive disorders"
] | [
"inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from each parent",
"inheritance of one identifiable paternal mutant allele and one allele that likely resulted from a maternal germline mutation",
"Germline mutations",
"mosiacism",
"autosomal recessive disorders",
"a de novo materna... | null | [
"genetic counseling"
] | null | null | null |
gaucher:22569507 | Gaucher disease: successful treatment of myoclonic status epilepticus with levetiracetam. | [
"We present the first reported case of a rapid clinical and electroencephalographic response to intravenous levetiracetam infusion of myoclonic status epilepticus in a patient with progressive myoclonus epilepsy due to Gaucher disease. Under continuous video-EEG monitoring, the clinical myoclonic status and the ele... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the first reported case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n rapid clinical and electroencephalographic response\n <span style=... | [
"myoclonic status epilepticus",
"progressive myoclonus epilepsy",
"Gaucher disease",
"metabolic myoclonic status epilepticus",
"Gaucher disease"
] | null | [
"rapid clinical and electroencephalographic response",
"clinical myoclonic status",
"electrographic ictal discharges resolved"
] | [
"intravenous levetiracetam infusion",
"levetiracetam",
"intravenous drug"
] | null | null | [
"without any reported side effects"
] |
gaucher:22515974 | Unexpected cure from cutaneous leukocytoclastic vasculitis in a patient treated with N-butyldeoxynojirimycin (miglustat) for Gaucher disease. | [
"Cutaneous leukocytoclastic vasculitis (CLV) is a necrotizing inflammation of the small vessels in the dermis. We report the case of a Swedish man with an untreated N370S/L444P Gaucher disease who developed CLV at the age of 79 years. The patient has been treated for CLV with topical and oral corticosteroids, moist... | [
"<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 Cutaneous leukocytoclastic vasculitis (CLV)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Cutaneous leukocytoclastic vasculitis (CLV)",
"CLV",
"CLV",
"Gaucher disease"
] | [
"untreated N370S/L444P Gaucher disease"
] | [
"durable cure of the CLV"
] | [
"topical and oral corticosteroids, moisturizing agents, and periodically with antibiotics for 3 years",
"Administration of miglustat (N-butyldeoxynojirimycin; Zavesca®)"
] | [
"Swedish"
] | null | [
"without improvement"
] |
gaucher:22493294 | Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis. | [
"Gaucher disease (GD), an inherited macrophage glycosphingolipidosis, manifests with an extraordinary variety of phenotypes that show imperfect correlation with mutations in the GBA gene. In addition to the classic manifestations, patients suffer from increased susceptibility to hematologic and nonhematologic malig... | [
"<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)",
"hematologic and nonhematologic malignancies",
"malignancy",
"GD",
"GD/cancer",
"GD/cancer",
"GD/T-cell acute lymphoblastic lymphoma",
"GD"
] | [
"inherited macrophage glycosphingolipidosis",
"mutations in the GBA gene",
"genetic modifier(s)",
"homozygous novel mutation in the MSH6 gene",
"constitutional mismatch repair deficiency syndrome",
"D137N mutation in GBA is a pathogenic mutation"
] | [
"immune dysregulation",
"increased cancer risk"
] | null | null | [
"absence of the MSH6 protein"
] | null |
gaucher:22352271 | Pulmonary involvement in siblings with Gaucher disease type III. | [
"Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a substantial risk for developing primary pulmonary disease in GD.",
"We reported s... | [
"<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 involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Gaucher disease (GD)",
"primary pulmonary disease",
"GD",
"GD type III",
"GD",
"Pulmonary disease",
"Primary lung disease",
"GD"
] | [
"homozygosity for L444P mutation in GBA gene",
"homozygous for L444P mutation",
"homoallelic for L444P mutation in GBA gene"
] | [
"Pulmonary involvement",
"Respiratory failure",
"fatal outcome",
"pulmonary complications",
"asymptomatic pulmonary involvement"
] | [
"2.5 years of ERT"
] | [
"Serbia"
] | null | [
"enzyme replacement therapy (ERT) was not available",
"unclear response to ERT"
] |
gaucher:22318527 | [Enzyme replacement therapy for Gaucher disease introduced in late adulthood]. | [
"Gaucher disease is the most prevalent lysosomal storage disorder caused by recessive mutation of the beta-glucocerebrosidase gene, which leads to massive lysosomal accumulation of glucocerebrosids especially in macrophages of bone marrow, liver and spleen. The most common presenting signs and symptoms are hepatosp... | [
"<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"
] | [
"recessive mutation of the beta-glucocerebrosidase gene"
] | [
"hepatosplenomegaly",
"bone pain",
"pathologic fractures",
"fatigue",
"bleeding tendency",
"recurrent infections",
"hepatosplenomegaly"
] | [
"Regular enzyme replacement therapy"
] | [
"Hungary"
] | [
"hematological abnormalities"
] | null |
gaucher:22305140 | [Hepatopulmonary syndrome: a complication of type 1 Gaucher disease]. | [
"Gaucher's disease is a not exceptional lysosomial disease in Tunisia. Type 1 is by far the most common one. Pulmonary involvement is considered to be rare in type 1 Gaucher's disease. Pulmonary hypertension, infiltration of the lungs with Gaucher cells, and severe hypoxemia due to intrapulmonary arterial-venous sh... | [
"<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",
"lysosomial disease",
"Type 1",
"type 1 Gaucher's disease",
"hepatopulmonary syndrome",
"type 1 Gaucher disease",
"Gaucher disease",
"hepatopulmonary syndrome",
"hypoxemia",
"liver disease"
] | null | [
"Pulmonary involvement",
"Pulmonary hypertension",
"severe hypoxemia",
"intrapulmonary arterial-venous shunts",
"dyspnoea",
"digital clubbing",
"cyanosis of the lips",
"intrapulmonary shunting"
] | [
"symptomatic measure",
"long term oxygen therapy",
"enzyme replacement therapy"
] | [
"Tunisia"
] | [
"severe hypoxaemia",
"PaO(2) at 56.9 mmHg"
] | null |
gaucher:22251146 | Mandibular and dental manifestations of Gaucher disease. | [
"Gaucher disease is a systemic lysosomal storage disorder with a high prevalence among Ashkenazi Jews. It is caused by an inherited deficiency of the lysosomal enzyme glucocerebrosidase. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, and skeletal involvement. Oral and dental manifes... | [
"<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 lysosomal storage disorder",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | [
"inherited deficiency of the lysosomal enzyme glucocerebrosidase"
] | [
"hepatosplenomegaly",
"skeletal involvement",
"Oral and dental manifestations",
"mandibulo-maxillofacial involvement",
"oral manifestations",
"postprocedure bleeding",
"infections",
"oral and dental complications"
] | null | [
"Ashkenazi Jews"
] | [
"anemia",
"thrombocytopenia"
] | [
"asymptomatic",
"benign nature of Gaucher cell infiltration of the mandible"
] |
gaucher:22230125 | [Clinical outcomes of 2 pediatric patients with Gaucher's disease in enzyme replacement therapy for 9 years]. | [
"We report two cases of type 1 Gaucher's disease in childhood and their outcomes after 9 years of enzyme replacement therapy. The first case concerns a 6-year-old boy who was diagnosed with Gaucher's disease after developing petechial exanthema, thrombocytopenia, anemia and hepatosplenomegaly, coinciding with chick... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two cases 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 type 1 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"type 1 Gaucher's disease",
"Gaucher's disease",
"chickenpox"
] | [
"N370S/L444P mutation"
] | [
"petechial exanthema",
"hepatosplenomegaly",
"hepatosplenomegaly"
] | [
"9 years of enzyme replacement therapy",
"Enzyme replacement therapy was started with 60 U/kg imiglucerase every 2 weeks"
] | null | [
"thrombocytopenia",
"anemia",
"thrombocytopenia"
] | null |
gaucher:22230124 | [Safety of use of velaglucerase in 2 patients with type 1 Gaucher's disease]. | [
"The incidence of immunologic reactions in patients with Gaucher's disease (GD) on enzymatic replacement therapy with imiglucerase is about 17% and related with the presence of non-neutralizing immunoglobulin G antibodies. The clinical trials with a new enzyme obtained in human cells (GA-GCB-velaglucerase) have dem... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The incidence 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 immunologic reactions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Gaucher's disease (GD)",
"EG"
] | null | [
"immunologic reactions",
"antibodies and important imiglucerase immunoallergic adverse reaction"
] | [
"enzymatic replacement therapy with imiglucerase",
"new enzyme obtained in human cells (GA-GCB-velaglucerase)",
"imiglucerase perfusion",
"systematic administration of steroids and antihistamines prior to each perfusion",
"perfusion time > 4h"
] | null | [
"presence of non-neutralizing immunoglobulin G antibodies"
] | [
"absence of immune reactions",
"no antibodies against the enzyme",
"previous developed antibodies against imiglucerase"
] |
gaucher:22233685 | Adult Gaucher disease in southern Tunisia: report of three cases. | [
"Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thromboc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disorder",
"type 1",
"late onset of GD",
"Parkinson disease",
"late onset",
"Gaucher disease",
"GD",
"GD"
] | [
"mutational homogeneity",
"p.N370S mutation",
"a homozygous state",
"compound heterozygous state",
"p.N370S mutation"
] | [
"bone pains",
"splenomegaly"
] | null | [
"Tunisian"
] | [
"thrombocytopenia"
] | null |
gaucher:22227073 | Progressive mesenteric lymphadenopathy with protein-losing enteropathy; a devastating complication in Gaucher disease. | [
"Mesenteric lymphadenopathy has been rarely reported in pediatric patients with Gaucher disease, developing despite the enzyme replacement therapy. The clinical implication of this condition is undetermined, with no consensus on treatment strategies. However, this condition can reflect the progression of Gaucher di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mesenteric lymphadenopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Gaucher disease",
"Gaucher disease",
"neuronopathic Gaucher disease"
] | null | [
"Mesenteric lymphadenopathy",
"mesenteric lymphadenopathy"
] | [
"early intervention"
] | null | [
"protein-losing enteropathy"
] | [
"despite the enzyme replacement therapy"
] |
gaucher:22089053 | Synchronous presentation of Gaucher disease and solitary plasmacytoma with progression to multiple myeloma. | [
"A 37-year-old Polish immigrant presented with unilateral hip pain and difficulty weight-bearing. Plain radiography and magnetic resonance imaging (MRI) revealed a lytic lesion in the acetabulum, with abnormal serum electrophoresis and bone marrow biopsy. The patient was diagnosed with two rare conditions presentin... | [
"<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 37-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher disease",
"plasmacytoma"
] | null | [
"unilateral hip pain",
"lytic lesion in the acetabulum",
"multiple lytic lesions in the ribs and vertebra",
"refractory bone or joint pain"
] | [
"enzyme therapy and radiotherapy",
"radiotherapy, followed by a retrograde femoral nail to reduce the risk of pathological fracture",
"systemic chemotherapy"
] | [
"Polish"
] | [
"abnormal serum electrophoresis"
] | [
"difficulty weight-bearing"
] |
gaucher:22080681 | Gauchers disease presenting with portal hypertension. | [
"Gauchers disease is a rare lysosomal storage disorder characterized by abnormal accumulation of lipid-laden macrophages in different organs. Though hepatosplenomegaly is commonly found, symptomatic presentation with portal hypertension is rare. We report a child with liver cirrhosis and bleeding esophageal varices... | [
"<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 Gauchers disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Gauchers disease",
"rare lysosomal storage disorder",
"liver cirrhosis",
"Gaucher's disease"
] | null | [
"hepatosplenomegaly",
"portal hypertension",
"bleeding esophageal varices"
] | null | null | null | null |
gaucher:22080680 | Recombinant macrophage targeted enzyme replacement therapy for Gaucher disease in India. | [
"Gaucher disease in India has been reported only in a few case reports from India. The aim of the study was to assess the response to enzyme replacement therapy in Indian patients with Gaucher disease.",
"Retrospective analysis of patients receiving CHO-derived recombinant macrophage-targetted glucocorebrosidase.... | [
"<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",
"lysosomal storage disorders",
"Gaucher disease",
"Gaucher disease",
"Type I",
"mild Type III",
"Gaucher Disease"
] | null | [
"organomegaly",
"bone disease",
"mild neurological symptoms",
"impairment of quality of life",
"significant neurological involvement",
"liver and spleen volumes",
"growth parameters",
"increase in weight was 3 kg (-5.6 to 10.5)",
"in height was 7.1 cm (0 to 26.5)",
"Liver size decreased by a mean ... | [
"enzyme replacement therapy",
"CHO-derived recombinant macrophage-targetted glucocorebrosidase",
"splenectomy",
"treatment for >6 months",
"drug infusions were given intravenously every 15 days",
"After 6 months of treatment",
"imiglucerase enzyme replacement therapy"
] | [
"India",
"India",
"Indian",
"India",
"India",
"India"
] | [
"low glucocerebrosidase levels",
"symptomatic anemia",
"thrombo-cytopenia",
"Hemoglobin, platelet counts",
"mean (range) increase in hemoglobin was 1.5 (-3.4 to 6.1) g/dL",
"and in platelet count was 32 x 10(9)/L (-98.5 x 109 to 145.5 x10(9))/L"
] | null |
gaucher:22046515 | Coxarthritis as the presenting symptom of Gaucher disease type 1. | [
"Gaucher disease (GD) type 1 is the most common lysosomal storage disorder due to beta glucocerebrosidase deficiency leading to an abnormal accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system. The disease presentation is usually characterized by signs and symptoms related to hypersp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD) type 1\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Gaucher disease (GD) type 1",
"lysosomal storage disorder",
"Skeletal disease",
"GD",
"coxitis"
] | null | [
"bone involvement",
"bone crisis",
"avascular necrosis",
"osteoporosis",
"defect in remodeling of long bones",
"osteoarticular involvement"
] | null | null | [
"beta glucocerebrosidase deficiency",
"hypersplenism",
"splenomegaly",
"anaemia",
"thrombocytopenia",
"leucopenia"
] | null |
gaucher:22041373 | Iliopsoas hematoma in Gaucher's disease. | [
"Gaucher's disease is an autosomal recessive inherited disease characterized by oraganomegaly, cytopenia and bone destruction. Clotting disorders and platelet dysfunctions are described. We report the case of a 22-year-old man who presented subacute groin pain due to spontaneous iliopsoas hematoma. Laboratory inves... | [
"<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",
"hip osteonecrosis"
] | [
"autosomal recessive inherited disease"
] | [
"oraganomegaly",
"bone destruction",
"subacute groin pain",
"spontaneous iliopsoas hematoma",
"spleen was moderately enlarged",
"Iliopsoas hematoma",
"pain localized to the groin-hip area"
] | null | null | [
"cytopenia",
"Clotting disorders",
"platelet dysfunctions",
"moderate thrombocytopenia"
] | [
"normal coagulation factor activities",
"unspecific platelet function test disturbances",
"no significant bone lesions were found"
] |
gaucher:21978771 | Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy. | [
"Gaucher disease occurs mainly as a result of a deficiency of the lysosomal enzyme beta-glucocerebrosidase activity. A rare variant form of Gaucher disease is known in which saposin C required for glucosylceramide degradation is deficient. In an earlier paper we described the first cases of two siblings with the no... | [
"<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"
] | null | [
"very slow deterioration of the peripheral and central nervous systems"
] | [
"treated with miglustat for two years"
] | null | [
"deficiency of the lysosomal enzyme beta-glucocerebrosidase activity",
"saposin C required for glucosylceramide degradation is deficient",
"saposin C deficiency"
] | [
"administration of miglustat failed to exert any favorable effect on the clinical condition, haematological parameters and glucosylceramide level in the serum"
] |
gaucher:21970506 | Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. | [
"Hemophagocytic lymphohistiocytosis (HLH) may develop secondary to infections, malignancies, immune deficiency syndromes, and rheumatologic and metabolic disorders. Associations between HLH and inborn errors of metabolism, including lysinuric protein intolerance, multiple sulfatase deficiency, galactosemia, 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 Hemophagocytic lymphohistiocytosis (HLH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Hemophagocytic lymphohistiocytosis (HLH)",
"malignancies",
"immune deficiency syndromes",
"rheumatologic and metabolic disorders",
"HLH",
"inborn errors of metabolism",
"lysinuric protein intolerance",
"multiple sulfatase deficiency",
"galactosemia",
"Gaucher disease",
"Pearson syndrome",
"ga... | null | [
"infections",
"metabolic attacks",
"died of multiorgan failure"
] | [
"Plasma exchange"
] | null | null | [
"Familial HLH was ruled out by molecular analysis",
"despite intensive therapy"
] |
gaucher:21935720 | Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease. | [
"Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disorder",
"Type 3,",
"chronic neuronopathic GD",
"GD",
"type 3 GD",
"type 3 GD"
] | [
"autosomal recessive",
"single gene disorder"
] | [
"Skeletal manifestations",
"abnormal bone remodeling",
"characteristic Erlenmeyer flask deformities",
"painful bone crises",
"osteopenia",
"increased frequency of fractures",
"Osteolytic lesions",
"large, expanding intramedullary lesions with cortical thinning",
"bilateral symmetrical cortical osteo... | null | null | [
"reduced or absent activity of glucocerebrosidase"
] | [
"osteonecrosis"
] |
gaucher:21897904 | Unusual presentation of adult Gaucher's disease: A long and difficult road to diagnosis. | [
"Gaucher's disease is the most frequent sphingolipid storage disease. We present a case of type 1 non-neuropathic type of adult Gaucher's disease patient with atypical presentation."
] | [
"<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",
"sphingolipid storage disease",
"type 1 non-neuropathic type of adult Gaucher's disease"
] | null | [
"atypical presentation"
] | null | null | null | null |
gaucher:21823541 | A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene. | [
"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, in utero fetal demise and neonatal distress. In some cases without hydrops, neurolog... | [
"<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 disease",
"Gaucher disease"
] | [
"homozygous for R463H mutation in GBA gene",
"homozygosity for C677T mutation in MTHFR gene",
"homozygous for the GBA R463H mutation",
"homozygous MTHFR C677T mutation"
] | [
"in utero fetal demise",
"neonatal distress",
"neurological signs",
"death",
"hepatosplenomegaly",
"ichthyosis",
"arthrogryposis",
"facial dysmorphy",
"severe neurologic signs",
"hepatosplenomagaly",
"facial dysmorphy",
"ichthyosiform skin abnormalities",
"thrombosis in portal and splenic ve... | null | null | [
"refractory thrombocytopenia",
"direct hyperbilirubinemia"
] | [
"without hydrops"
] |
gaucher:21804517 | Gaucher disease. | [
"A 14 months old boy of consanguineous parent presented with hepatosplenomegaly with delayed mile stones of development. He is till unable to walk. He was moderately anemic. Moderately wasted and stunted. Neurological examination was normal except subnormal intelligence. This subnormal intelligence and delayed mile... | [
"<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 14 months old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Type I: Non neuropathic form",
"Type II: Acute neuropathic form",
"Type III",
"Chronic neuropathic form",
"Gaucher disease",
"type I and III"
] | [
"autosomal recessively inherited"
] | [
"hepatosplenomegaly",
"delayed mile stones of development",
"Moderately wasted",
"stunted",
"subnormal intelligence",
"subnormal intelligence",
"delayed milestone",
"growth retardation",
"typical bone involvement in X-ray film (Thin cortex in Limb bone)"
] | [
"medicine",
"enzyme replacement therapy"
] | null | [
"moderately anemic"
] | [
"unable to walk",
"Neurological examination was normal",
"no abnormality"
] |
gaucher:21796727 | A mutation in SCARB2 is a modifier in Gaucher disease. | [
"Lysosomal integral membrane protein type 2 (LIMP-2) is responsible for proper sorting and lysosomal targeting of glucocerebrosidase, the enzyme deficient in Gaucher disease (GD). Mutations in the gene for LIMP-2, SCARB2, are implicated in inherited forms of myoclonic epilepsy, and myoclonic epilepsy is part of 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 Lysosomal integral membrane protein type 2 (LIMP-2)\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"Gaucher disease (GD)",
"myoclonic epilepsy",
"myoclonic epilepsy",
"GD",
"Gaucher",
"myoclonic epilepsy",
"GD",
"myoclonic epilepsy",
"LIMP-2",
"myoclonic epilepsy",
"GD"
] | [
"Lysosomal integral membrane protein type 2 (LIMP-2)",
"Mutations in the gene for LIMP-2, SCARB2",
"inherited",
"SCARB2 mutations",
"heterozygous, maternally inherited novel mutation, c.1412A>G (p.Glu471Gly), in the brother with GD and myoclonic epilepsy",
"LIMP-2"
] | null | null | null | [
"lysosomal targeting of glucocerebrosidase",
"enzyme deficient",
"Glucocerebrosidase activity"
] | [
"failed to identify additional mutations"
] |
gaucher:21779299 | Parkinsonism associated with glucocerebrosidase mutation. | [
"Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD). We report herein a family of Koreans exhibiting parkinsonism-... | [
"<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",
"Parkinson's disease (PD)",
"invasive ductal carcinoma",
"Gaucher's disease",
"PD"
] | [
"autosomal recessive",
"mutations of the β-glucocerebrosidase gene (GBA)",
"GBA mutations",
"parkinsonism-associated GBA mutations",
"double mutations of S271G and R359X in GBA",
"heterozygote mutation of GBA",
"GBA mutation"
] | [
"slowness and paresthesia of the left arm for the previous 1.5years",
"Parkinsonian features",
"low amplitude postural tremors",
"rigidity",
"bradykinesia",
"shuffling gait"
] | null | [
"Korean"
] | null | null |
gaucher:21744338 | Gaucher disease diagnosed after bone marrow trephine biopsy - a report of two cases. | [
"The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy. We present the cases of two patients in whom Gaucher disease was suspected because of the discovery of ... | [
"<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 hematologist\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Gaucher disease",
"Gaucher disease"
] | null | [
"hepatosplenomegaly"
] | null | null | [
"cytopenia"
] | null |
gaucher:21731876 | Cor pulmonale in a case of infantile Gaucher's disease. | [
"Infantile Gaucher's disease presenting as cor pulmonale is rarely reported in pediatric literature. We report a 3.3 year old boy with infantile Gaucher's disease who presented to us as interstitial lung disease, pulmonary hypertension along with features of cor pulmonale. The high resolution CT findings were typic... | [
"<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 Infantile Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Infantile Gaucher's disease",
"cor pulmonale",
"infantile Gaucher's disease",
"interstitial lung disease"
] | null | [
"pulmonary hypertension",
"features of cor pulmonale",
"Cor pulmonale",
"severe pulmonary hypertension"
] | null | null | null | null |
gaucher:21618611 | Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond. | [
"Parkinson's disease is associated with mutations in the glucocerebrosidase gene, which result in the enzyme deficiency causing Gaucher disease, the most common lysosomal storage disorder. We have performed an exhaustive literature search and found that additional lysosomal storage disorders might be associated wit... | [
"<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 Parkinson's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Parkinson's disease",
"Gaucher disease",
"lysosomal storage disorder",
"lysosomal storage disorders",
"Parkinson's disease",
"Parkinson's disease",
"lysosomal storage disorders",
"Gaucher disease",
"lysosomal storage disorders"
] | [
"mutations in the glucocerebrosidase gene",
"mutations in genes encoding lysosomal proteins"
] | [
"Parkinson's symptoms"
] | null | null | [
"enzyme deficiency",
"changes in glucocerebrosidase activity or in glucosylceramide levels"
] | null |
gaucher:21455010 | Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation. | [
"This paper describes a neonate with type II Gaucher disease. The phenotype was unusually severe with congenital ichthyosis, hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure. Electron microscopy of the skin revealed lamellar body contents in the stratum corneum interstices, appearances cons... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This paper describes 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 neonate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"type II Gaucher disease"
] | [
"homozygous null mutation, c.1505G→A of the β-glucocerebrosidase gene."
] | [
"congenital ichthyosis",
"hepatosplenomegaly",
"muscular hypotonia",
"myoclonus",
"respiratory failure",
"died",
"respiratory failure"
] | null | null | null | [
"made no neurological progress"
] |
gaucher:21431620 | Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele. | [
"We report a 31 year old woman who had prenatal carrier screening for Ashkenazi Jewish (AJ) genetic diseases and was found to have two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P), consistent with the diagnosis of Type 1 Gaucher disease (GD1). This genotype typically manifests in la... | [
"<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 31 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Type 1 Gaucher disease (GD1)",
"GD"
] | [
"two acid ß-glucosidase (GBA) mutations, c.1226A>G(p.N370S) and c.1448T>C(p.L444P)",
"c.1226A>G(p.N370S) and c.1448T>C(p.L444P) mutations, along with c.1483G>C(p.A456P), and c.1497G>C(p.V460V) mutations, the latter three lesions composing the rare GBA pseudogene-derived RecNcil allele",
"novel allele with the t... | [
"hepatosplenomegaly",
"early-onset bone involvement"
] | null | [
"Ashkenazi Jewish (AJ) genetic diseases"
] | null | [
"normal physical examination",
"no organomegaly",
"normal blood counts, skeletal survey, and bone density",
"Leukocyte acid ß-glucosidase and plasma chitotriosidase activities were normal",
"negative for both mutations",
"misdiagnosed the asymptomatic Proband as affected with Type 1 Gaucher disease"
] |
gaucher:21246808 | [Bone manifestations of Gaucher's disease in Mexican patients]. | [
"Gaucher's disease (GD) is the most common of the lysosomal storage diseases (LSDs) that have been defined so far. Its incidence rate is quite low, but its organ involvement profile is disrupting as it results in a considerable morbidity and mortality rate, as well as in high health care costs and poor quality of 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 Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher's disease (GD)",
"lysosomal storage diseases (LSDs)"
] | [
"recessive and autosomal genetic disease"
] | [
"organ involvement",
"poor quality of life",
"bone damage"
] | [
"enzyme replacement therapy (ERT)"
] | [
"Mexican"
] | [
"insufficiency of the enzyme glucocerebrosidase"
] | null |
gaucher:21194904 | [Difficult transitions from paediatric to adult care in type 1 Gaucher disease]. | [
"Gaucher disease is the most frequent lysosomal storage disease. It is a progressive chronic disease that can lead to substantial bone and joint damage and hematological cytopenias. This progressive disease severely worsens the patients' quality of life. Over the past 20 years, enzymatic treatment has considerably ... | [
"<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",
"progressive chronic disease",
"progressive disease"
] | null | [
"substantial bone and joint damage",
"quality of life",
"bone and joint damage",
"disease worsening",
"disease notably worsened"
] | [
"enzymatic treatment",
"uninterrupted treatment",
"transition from pediatric to adult care",
"follow-up"
] | null | [
"hematological cytopenias"
] | [
"lost to follow-up"
] |
gaucher:23754899 | Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes. | [
"Gaucher disease (GD) is characterized by reduced activity of glucocerebrosidase leading to complications in the reticuloendothelial system. N396T, a rarer mutation of the glucocerebrosidase gene, has been encountered in Portuguese populations and has generally been associated with milder phenotypes. This report pr... | [
"<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)",
"comorbid diabetes mellitus",
"human immunodeficiency virus (HIV) infection",
"GD",
"GD",
"HIV"
] | [
"N396T, a rarer mutation of the glucocerebrosidase gene"
] | [
"complications in the reticuloendothelial system"
] | [
"Enzyme replacement therapy (ERT)",
"antiretroviral treatment to proceed for the HIV",
"ERT",
"antiretroviral therapy"
] | [
"Portuguese",
"Portuguese"
] | [
"reduced activity of glucocerebrosidase",
"residual enzyme activity is very low"
] | [
"poor correlation of clinical GD",
"residual enzyme activity"
] |
gaucher:22606518 | Splenomegaly, cardiomegaly, and osteoporosis in a child with Gaucher disease. | [
"A 15-month-old girl, born to the consanguineous parents, was referred with the sign of massive splenomegaly associated with thrombocytopenia and anemia. Plasma Chitotriosidase estimation was carried out as a screening test and was found to be normal with reduced activity of β-glucosidase in leucocytes suggestive o... | [
"<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 15-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Gaucher disease",
"Gaucher disease"
] | [
"homozygous status for L444P (c.1448C) in the proband",
"heterozygous for L444P (c.1448C) in the GBA gene",
"heterozygous condition"
] | [
"massive splenomegaly",
"severe osteoporosis",
"cardiomegaly",
"pulmonary congestion",
"splenomegaly"
] | null | null | [
"thrombocytopenia",
"anemia",
"reduced activity of β-glucosidase in leucocytes",
"anemia",
"thrombocytopenia"
] | [
"Plasma Chitotriosidase estimation",
"be normal"
] |
gaucher:21184722 | [Experience in the management of pediatric patients with Gaucher disease]. | [
"Among lysosomal storage diseases, Gaucher disease depicts the highest rate of incidence, according with the international epidemiological reports. Gaucher disease is due to an impairing of the acid beta-glucosidase enzyme, since its lack promotes accumulation of the sphingolipid glucosylceramide at macrophages, le... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Among \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 diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"lysosomal storage diseases",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | null | [
"heterogeneous multiorganic damage (visceral, skeletal, and central nervous system affectation)"
] | [
"UMAE 25",
"enzyme replacement therapy"
] | [
"Monterrey",
"Nuevo León",
"Monterrey",
"Instituto Mexicano del Seguro Social"
] | [
"impairing of the acid beta-glucosidase enzyme",
"lack"
] | null |
gaucher:21118740 | Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk. | [
"Enzyme replacement therapy (ERT) with imiglucerase is a well-established, effective treatment for Gaucher disease. However, there have been no published reports regarding the excretion of imiglucerase into human breast milk and its effects on the nursing infant.",
"This letter reports on the successful pregnancy... | [
"<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 Enzyme replacement therapy (ERT) with imiglucerase\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | null | null | [
"Enzyme replacement therapy (ERT) with imiglucerase",
"successful pregnancy and lactation",
"treatment with imiglucerase",
"2 successful pregnancies",
"continued ERT through both",
"administered a 1-hour infusion of imiglucerase 60 U/kg that coincided with her regular every-2-week regimen",
"successful ... | [
"Japanese",
"Japanese"
] | [
"excretion of imiglucerase into human breast milk",
"peak of serum β-glucocerebrosidase activity (0.119 nmol/h/mL)",
"Slightly increased enzymatic activity (0.016 nmol/h/mL) was observed in the first breast milk sampled after imiglucerase infusion"
] | [
"galactorrhea"
] |
gaucher:21113739 | Gaucher disease with foamy transformed macrophages and erythrophagocytic activity. | [
"Foamy transformation of macrophages is typically seen in lysosomal storage disorders in patients with Niemann-Pick disease, but foamy Gaucher cells (GC) were previously reported only once, in the autopsy report. Although the majority of stored glucocerebroside in GC is of erythrocyte origin, apparent erythrophagoc... | [
"<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 Foamy transformation of macrophages\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"lysosomal storage disorders",
"Niemann-Pick disease",
"storage disorder",
"Gaucher disease"
] | [
"heterozygous Gaucher disease type 1 (mutations c.1226A>G and c.1448T>C in the GBA1 gene)"
] | null | null | [
"non-Jewish Caucasian"
] | null | null |
gaucher:21087600 | Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease. | [
"Gaucher disease (GD) is a rare autosomal recessive disorder caused mainly by mutations in the glucocerebrosidase (GBA) gene. Great phenotypic variability has been observed among patients with the same genotype, suggesting other factors, such as polymorphic variants, might influence GD phenotypes. We previously 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 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",
"GD"
] | [
"rare autosomal recessive disorder",
"mutations in the glucocerebrosidase (GBA) gene",
"polymorphic variants",
"c.(-203)A>G (g.1256A>G) variant in exon 1 of the GBA gene",
"transcriptional activity of the promoter carrying the G-allele",
"the G-allele was always found in combination with another mutation ... | [
"more severe GD phenotype"
] | null | [
"Spanish"
] | [
"defective GBA protein"
] | null |
gaucher:21056933 | A monozygotic twin pair with highly discordant Gaucher phenotypes. | [
"We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any symptoms or signs of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n monozygotic twin sisters, born to consanguineous Moroccan parents\n <span style=\"font-size: 0... | [
"type 1 diabetes mellitus"
] | null | [
"severe visceral involvement",
"epilepsy",
"cerebellar syndrome"
] | null | null | null | null |
gaucher:21053872 | Avascular necrosis of the capitate. | [
"Although a large portion of the capitate is supplied by a single nutrient vessel, avascular necrosis of the capitatum is a rare condition. Its etiology is not clear, but a number of factors are linked to its pathogenesis including: repetitive trauma, dorsal instability of the carpus, Gaucher disease, systemic lupu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although a large portion \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n of the capitate\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"avascular necrosis of the capitatum",
"Gaucher disease",
"systemic lupus erythematosus",
"gout",
"hyperemesis gravidarum",
"pregnancy",
"avascular necrosis of the capitate",
"pregnancy"
] | null | [
"of the capitate",
"single nutrient vessel",
"repetitive trauma",
"dorsal instability of the carpus",
"right wrist pain of 12 months duration",
"70° extension and 45° flexion of her wrist",
"hypodense area at the capitate head",
"midcarpal joint arthritis",
"avascular necrosis of the capitate and mi... | [
"steroid use",
"treated with 2 to 4 mg/daily of prednisone during her pregnancy for 6 weeks",
"Lunocapitate fusion with a partial scaphoidectomy",
"small dose of steroid use"
] | null | null | [
"no major trauma",
"pain free in the majority of her activities of daily living",
"symptoms are not resolved with basic nonoperative measures"
] |
gaucher:21036086 | Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event. | [
"Gaucher disease is the most frequent lysosomal storage disorder due to the autosomal recessive deficiency of acid β-glucosidase. More than 300 mutations in the GBA1 gene have been described. However only one large deletion of the GBA1 gene has been reported to date. Here, using a combination of different experimen... | [
"<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"
] | [
"autosomal recessive",
"mutations in the GBA1 gene",
"large deletion of the GBA1 gene",
"new large deletion of the GBA1 gene due to an inter Alu recombination event"
] | null | null | null | [
"deficiency of acid β-glucosidase"
] | null |
gaucher:20954144 | Vitrectomy for vitreous opacities and macular pucker in Gaucher disease. | [
"To report significant surgical results in an uncommon ophthalmologic complication of a rare disease.",
"Interventional case report.",
"A 16-year-old girl with type III Gaucher disease experienced visual loss in both eyes. Ophthalmologic examination revealed dense whitish vitreous opacities and macular pucker O... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report significant surgical results in an uncommon \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ophthalmologic complication\n <span style=\"font-siz... | [
"rare disease",
"type III Gaucher disease",
"Gaucher disease"
] | null | [
"ophthalmologic complication",
"visual loss in both eyes",
"dense whitish vitreous opacities",
"macular pucker OU",
"Visual acuity (VA) OD was 20/63 and OS was 20/25",
"Visual acuity improved, reaching 20/25",
"Visual acuity OS decreased",
"VA OS was 20/100",
"BCVA was 20/25 OD and 20/20 OS",
"sev... | [
"Interventional case report",
"25-gauge vitrectomy with removal of the vitreous core, posterior vitreous cortex, and indocyanine green?stained internal limiting membrane OD",
"surgery",
"vitrectomy",
"surgery",
"surgery",
"surgery",
"surgical approach"
] | null | null | [
"despite the appearance of small preretinal flecks"
] |
gaucher:20946052 | Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations. | [
"Gaucher disease is an autosomal recessive disorder resulting from deficient activity of the lysosomal enzyme glucocerebrosidase (GBA, E.C.3.2.1.45). Three clinical forms of Gaucher disease have been described: type 1, nonneuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic (OMIM 230800, 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",
"Gaucher disease",
"type 1, nonneuronopathic",
"type 2, acute neuronopathic",
"type 3, subacute neuronopathic",
"perinatal lethal form of Gaucher disease (PLGD)",
"Gaucher disease",
"congenital ichthyosis",
"nonimmune hydrops fetalis",
"PLGD",
"Gaucher disease",
"PLGD",
"P... | [
"autosomal recessive disorder",
"OMIM 230800",
"homozygosity for recombinant GBA alleles, which are fundamentally null alleles",
"genotypes involving a recombinant allele and a missense mutation",
"compound heterozygosity for the GBA Rec Nci I null allele and a R131C missense mutation",
"missense mutation... | [
"early lethality",
"prenatal onset",
"death",
"early lethality"
] | null | null | [
"deficient activity of the lysosomal enzyme glucocerebrosidase (GBA"
] | null |
gaucher:20924719 | Perinatal lethal Gaucher disease. | [
"Perinatal Lethal Gaucher Disease (PLGD) is a rare form of Gaucher disease and is often considered a distinct form of type 2 Gaucher disease. The authors report on an infant who presented with progressive hepatosplenomegaly, ichthyosis, generalized skin edema and neonatal encephalopathy and died at 6 h of age. Auto... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Perinatal Lethal Gaucher Disease (PLGD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Perinatal Lethal Gaucher Disease (PLGD)",
"rare form of Gaucher disease",
"type 2 Gaucher disease"
] | null | [
"progressive hepatosplenomegaly",
"ichthyosis",
"generalized skin edema",
"neonatal encephalopathy",
"died",
"massive hepatosplenomegaly",
"ichthyosis",
"diffuse collodion picture"
] | null | null | null | null |
gaucher:20882348 | Misdiagnosis of Niemann-Pick disease type C as Gaucher disease. | [
"Niemann-Pick disease type C (NPC) is a model for inborn errors of metabolism whose gene product mediates molecular trafficking rather than catabolizing macromolecules, as in classic lipidoses. We report the case of an infant who presented with hepatosplenomegaly without neurological abnormalities. Decreased activi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Niemann-Pick disease type C (NPC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Niemann-Pick disease type C (NPC)",
"lipidoses",
"Gaucher disease (GD)",
"NPC",
"NPC",
"visceral disease",
"NPC",
"NPC",
"NPC"
] | [
"inborn errors of metabolism",
"compound heterozygote for a known and a novel mutation in the NPC gene (395delC and 2068insTCCC), which are both predicted to lead to protein truncation"
] | [
"hepatosplenomegaly",
"hepatosplenomegaly",
"neurodegenerative disease",
"hepatosplenomegaly"
] | null | null | [
"Decreased activity of acid β-glucosidase",
"elevated serum chitotriosidase and tartrate-resistant acid phosphatase on repeated measurements",
"decreased activity of leukocyte acid β-glucosidase activity",
"elevated serum chitotriosidase to levels often seen in GD",
"acid β-glucosidase activity in leukocyte... | [
"without neurological abnormalities",
"Failure to respond to enzyme replacement therapy after one year",
", it was in the normal range in skin fibroblasts",
"false positive testing for GD",
"absence of neurodevelopmental signs"
] |
gaucher:20880730 | Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity. | [
"Gaucher disease (GD), the most common lysosomal storage disease, results from a deficiency of the lysosomal enzyme glucocerebrosidase. GD has been classified into 3 types, of which type 2 (the acute neuronopathic form) is the most severe, presenting pre- or perinatally, or in the first few months of life. Traditio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disease",
"GD",
"type 2 (the acute neuronopathic form)",
"type 2 GD",
"GD subtypes",
"type 2 GD",
"types 1 and 3",
"type 2 GD",
"type 2 GD"
] | [
"severe mutations in the glucocerebrosidase gene"
] | null | null | null | [
"deficiency of the lysosomal enzyme glucocerebrosidase"
] | null |
gaucher:20846888 | Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases. | [
"Gaucher type 1 disease has a wide spectrum of phenotypes ranging from asymptomatic individuals to patients with massive hepatosplenomegaly and bone involvement. In most, anemia, thrombocytopenia and splenomegaly are the primary manifestations at diagnosis, findings shared by the hemoglobinopathies. Here we report ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher type 1 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher type 1 disease",
"hemoglobinopathies"
] | null | [
"massive hepatosplenomegaly",
"bone involvement",
"splenomegaly"
] | null | [
"Iran"
] | [
"anemia",
"thrombocytopenia"
] | [
"asymptomatic"
] |
gaucher:20718842 | Aortic and mitral valve stenosis with regurgitation: not due to rheumatic heart disease. | [
"The patient is a 13-year-old Mexican-American immigrant who had no previous medical care. Upon arrival to the United States she was diagnosed with severe mitral valve stenosis and regurgitation. In addition she had severe aortic stenosis with mild to moderate aortic valve regurgitation, which was thought to be rhe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The patient is 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 13-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"rheumatic heart disease",
"Gaucher disease"
] | null | [
"severe mitral valve stenosis and regurgitation",
"severe aortic stenosis",
"mild to moderate aortic valve regurgitation",
"her aorta was completely calcified, as were her coronary arteries, mitral valve and aortic valve"
] | [
"both mitral and aortic valve replacement",
"aortic and mitral valve replacement as well as replacement of her aortic arch",
"coronary arteries were patch augmented and reimplanted into the newly created ascending aorta"
] | [
"Mexican-American",
"immigrant"
] | null | [
"no previous medical care"
] |
gaucher:20689991 | Pulmonary hemorrhage in type 3 Gaucher disease: a case report. | [
"A 2-year-old boy with type 3 Gaucher disease (GD) on treatment with enzyme replacement therapy (ERT) was found dead in bed having been apparently well the night before. At the time of diagnosis, he had significant respiratory symptoms (severe and persistent bouts of coughing) that had been attributed to Gaucher lu... | [
"<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 2-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"type 3 Gaucher disease (GD)",
"secondary to GD",
"Gaucher lung disease"
] | null | [
"dead in bed having been apparently well",
"significant respiratory symptoms",
"severe and persistent bouts of coughing)",
"death",
"extensive pulmonary hemorrhage",
"Death",
"pulmonary hemorrhage secondary to GD",
"isolated pulmonary hemorrhage"
] | [
"treatment with enzyme replacement therapy (ERT)",
"inhaled and orally administered steroids"
] | null | null | [
"little evidence of GD elsewhere"
] |
gaucher:20661673 | Primary bone angiosarcoma in a patient with Gaucher disease. | [
"Skeletal pain and the resulting skeletal complications are common in Gaucher disease. The patients therefore usually receive symptomatic treatment and only rarely undergo additional diagnostic procedures. The paper describes the case of a patient with Gaucher disease who had advancing pain in the right knee and fe... | [
"<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 Skeletal pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher disease",
"Gaucher disease",
"primary bone angiosarcoma",
"Gaucher disease"
] | null | [
"Skeletal pain",
"skeletal complications",
"advancing pain in the right knee and femur",
"pathological fracture of the painful part of the leg",
"skeletal pain",
"skeletal"
] | [
"symptomatic treatment",
"surgical treatment"
] | null | [
"thrombocyte dysfunction"
] | null |
gaucher:20659098 | Long-term outcomes of liver transplantation in type 1 Gaucher disease. | [
"Gaucher disease (GD) is the most prevalent lysosomal storage disorder. Enzyme replacement therapy (ERT) has demonstrable efficacy in reversing clinical and pathological manifestations of GD. We report four patients with GD and severe hepatic impairment who were successfully treated by orthotopic liver transplantat... | [
"<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",
"HCV and autoimmune chronic active hepatitis)",
"end-stage liver disease",
"Gaucher disease"
] | null | [
"reversing clinical and pathological manifestations",
"severe hepatic impairment",
"Liver failure"
] | [
"Enzyme replacement therapy (ERT)",
"orthotopic liver transplantation",
"successful liver transplantation",
"long-term ERT",
"Liver transplantation",
"life-saving treatment",
"liver transplantation"
] | null | null | [
"no evidence of Gaucher-related pathology in the graft"
] |
gaucher:20541855 | [Atypical recurrent aseptic cutaneous abscesses as the presenting manifestation of Crohn's disease]. | [
"We report here a case of chronic inflammatory bowel disease revealed by multiple large cutaneous aseptic distal necrotic ulcers.",
"A 44-year-old male presented with high fever at 40°C associated with multiple necrotic abcesses located on the distal part of his limbs. They were treated successfully by debridment... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report here a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n chronic inflammatory bowel disease\n <span style=\"font-size: 0.8em; font-weight:... | [
"chronic inflammatory bowel disease",
"Crohn's disease",
"Crohn's disease"
] | null | [
"multiple large cutaneous aseptic distal necrotic ulcers",
"high fever at 40°C",
"multiple necrotic abcesses located on the distal part of his limbs",
"complete healing",
"relapsed on his left hand",
"short episode of diarrhoea",
"complete remission",
"Skin manifestations",
"atypical because of thei... | [
"debridment and dressings associated with antibiotics",
"Systemic corticotherapy and azathioprine"
] | null | null | null |
gaucher:20535608 | Intravenous bisphosphonate treatment and pregnancy: its effects on mother and infant bone health. | [
"Type 1 Gaucher's disease (GD1) is a lysosomal storage disorder associated with disabling bone involvement. The choice treatment for Gaucher's disease is enzyme replacement therapy (ERT). The use of bisphosphonate treatment for osteopenia and osteoporosis has been suggested.",
"A 22-year-old woman diagnosed with ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type 1 Gaucher's disease (GD1)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Type 1 Gaucher's disease (GD1)",
"lysosomal storage disorder",
"Gaucher's disease",
"osteopenia",
"GD1"
] | null | [
"disabling bone involvement",
"osteoporosis",
"severe bone involvement",
"multiple vertebral fractures",
"stable total skeleton and right femoral neck bone mineral density (BMD) values",
"only ~3% decrease in lumbar spine BMD 15 months post-delivery",
"positive protective effect on the mother's skeleton... | [
"enzyme replacement therapy (ERT)",
"bisphosphonate treatment",
"ERT intermittently",
"intravenous administration of 60 mg of pamidronate every 3 months",
"safe contraception",
"pregnant",
"baby girl",
"cesarean delivery at week 37",
"year breastfeeding period",
"pamidronate"
] | null | [
"average ~7-8%)"
] | [
"no evidence of skeletal abnormality",
"or clinical signs of hypocalcemia",
"no significant pathology",
"height, body weight, and bone mineral density by DXA are within normal range",
"no new fractures",
"no evidence of adverse effects on pregnancy or on the baby's health"
] |
gaucher:20499804 | [Anesthetic management in a pregnant woman with type 1 Gaucher disease]. | [
"Gaucher disease is a genetic disorder in which the enzyme activity of lysosomal acid beta-glucocerebrosidase is impaired, causing excessive lysosomal storage of glucocerebrosidase in monocytes and macrophages. Coagulation and multiorgan disorders can develop during pregnancy in women with this disorder, affecting ... | [
"<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",
"type 1 Gaucher disease",
"Gaucher disease"
] | [
"genetic disorder"
] | [
"Coagulation",
"multiorgan disorders",
"hepatosplenomegaly",
"osteopenia",
"gastroesophageal reflux",
"analgesia were both satisfactory"
] | [
"anesthetic management",
"cesarean section",
"Epidural anesthesia-analgesia",
"anesthesia",
"Regional anesthesia"
] | null | [
"enzyme activity of lysosomal acid beta-glucocerebrosidase is impaired",
"thrombocytopenia"
] | [
"no complications developed after withdrawal of the epidural catheter"
] |
gaucher:20432762 | An unusual presentation of Gaucher's disease: aortic valve fibrosis in a patient homozygous for a rare G377S mutation. | [
"Gaucher's disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD has been well characterized, with almost 300 mutations identified in the glucocerebrosidase gene (GBA). Nevertheless,... | [
"<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",
"rare type 3c GD",
"severe form of type 1 GD"
] | [
"genetic disorder",
"in the glucocerebrosidase gene (GBA)",
"homozygous for the G377S mutation",
"homozygosity for the D409H mutation",
"G377S,",
"rare mutation",
"homoallelic",
"homozygous for G377S mutation"
] | [
"cardiac involvement",
"aortic valve pathology",
"heart failure (NYHA III)",
"severe fibrosed aortic valve stenosis",
"Moderate splenomegaly",
"cardiovascular valvular disease",
"mild disease",
"rare cardiac valve involvement"
] | [
"Valvuloplasty"
] | null | [
"thrombocytopenia",
"severe",
"Anemia",
"leukopenia"
] | [
"Despite medical follow up",
", previously considered to be autoimmune",
"essentialy asymptomatic"
] |
gaucher:20182212 | Bilateral pseudohypopyon as a presenting feature of recurrent diffuse large B-cell lymphoma. | [
"A 55-year-old man with Gaucher disease and B-cell lymphoma developed a white meniscus along the inferior portion of the anterior chamber of both eyes. In one eye, the meniscus was also temporal, reflecting the fact that he had just been lying on his left side. Aspiration of aqueous fluid confirmed that the meniscu... | [
"<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 55-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher disease",
"B-cell lymphoma",
"lymphomatous",
"diffuse large B-cell lymphoma"
] | null | [
"white meniscus along the inferior portion of the anterior chamber of both eyes",
"the meniscus was also temporal",
"pseudohypopyon",
"true hypopyon is made up of reactive white blood cells",
"expired",
"pseudohypopyon",
"binocular pseudohypopyon"
] | null | null | null | [
"Despite intensive chemotherapy"
] |
gaucher:20146645 | Exceptional oral manifestations of amyloid light chain protein (AL) systemic amyloidosis. | [
"Oral amyloidosis is usually presented in the tongue and is often associated with multiple myeloma. We present three patients with unusual oral manifestations of primary amyloidosis, which to the best of our knowledge have not been previously published. In two cases the oral manifestation was overt at the time of 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 Oral amyloidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Oral amyloidosis",
"multiple myeloma",
"primary amyloidosis",
"systemic amyloidosis"
] | null | [
"unusual oral manifestations",
"oral manifestation",
"oral manifestations",
"oral manifestation"
] | null | null | null | null |
gaucher:20110029 | Effects of imiglucerase treatment on traumatic fracture and bone and blood abnormalities in a patient with previously untreated type 1 gaucher disease. | [
"This letter reports on the effect of enzyme replacement therapy with imiglucerase on bone healing and bone and blood abnormalities in a woman with previously untreated type 1 Gaucher disease (GD).",
"The 49-year-old patient had been diagnosed with GD at the age of 28 years and had previously undergone splenectom... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This letter reports on the effect 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 enzyme replacement therapy with imiglucerase\n <span style=\"font-siz... | [
"type 1 Gaucher disease (GD)",
"GD",
"pseudarthrosis"
] | null | [
"bone healing",
"bone and blood abnormalities",
"bone healing",
"Objective bone healing",
"traumatic fracture"
] | [
"enzyme replacement therapy with imiglucerase",
"previously undergone splenectomy",
"sustaining a traumatic fracture of the tibia and fibula",
"imiglucerase 60 U/kg q2wk",
"imiglucerase treatment",
"enzyme replacement therapy with imiglucerase"
] | null | [
"Blood abnormalities normalized",
"months"
] | [
"previously untreated type 1 GD"
] |
gaucher:20099228 | Spectral OCT analysis in Bietti crystalline dystrophy. | [
"To report the analysis of the cornea and the macular retina using both time domain (TD-OCT) and Fourier domain optical coherence tomography (FD-OCT) in a case of Bietti crystalline dystrophy (BCD).",
"This is a case study of a 32-year-old woman who presented with moderate visual loss in both eyes with nyctalopia... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report 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 analysis of the cornea and the macular retina using both time domain (TD-OCT) and Fourier domai... | [
"Bietti crystalline dystrophy (BCD)",
"BCD",
"BCD"
] | null | [
"moderate visual loss in both eyes",
"nyctalopia",
"Large atrophy of retinal pigment epithelium",
"choroidal sclerosis",
"Visual fields were constricted",
"electrophysiology was greatly impaired",
"modifications of the outer retina",
"presence of numerous lesions corresponding to microcrystals deposit... | null | null | null | [
"TD-OCT examination was normal"
] |
gaucher:20093936 | Gaucher's disease type I: a disease masked by the presence of abnormal laboratory tests common to primary liver disease. | [
"Gaucher's disease (GD) may go undiagnosed for many years, leading to severe complications that are preventable or reversible by enzyme replacement therapy with imiglucerase. GD is associated with cytopenia, bone complications, hepatosplenomegaly, hypermetabolism, and hyperactivity of the immune system manifested b... | [
"<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",
"GD",
"GD"
] | null | [
"bone complications",
"hepatosplenomegaly",
"hypermetabolism",
"clinical similarities with primary liver diseases",
"life-threatening manifestations",
"avascular necrosis",
"severe bleeding",
"chronic bone pain",
"life-threatening sepsis",
"pathologic fractures",
"growth failure",
"liver patho... | [
"enzyme replacement therapy with imiglucerase"
] | null | [
"cytopenia",
"hyperactivity of the immune system",
"polyclonal hyper gamma-globulinemia",
"monoclonal gammopathies",
"High ferritin",
"presence of autoimmune antibodies"
] | null |
gaucher:20072680 | Type-3 Gaucher disease with bilateral necrosis of the neck of femur: a case report. | [
"Though Gauchers disease (G.D.), a lipid storage disease is most commonly encountered by the hematologist but we present a case of G.D. type-3 which is rare in Indian subcontinent.",
"A 36-year-old Hindu, Indian male patient presented with bony pain, kyphosis, dragging sensation in the abdomen, dementia and ptosi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Though \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gauchers disease (G.D.)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Gauchers disease (G.D.)",
"lipid storage disease",
"G.D. type-3",
"lipid storage disease",
"G.D. type-3",
"G.D. type-3",
"G.D."
] | null | [
"bony pain",
"kyphosis",
"dragging sensation in the abdomen",
"dementia",
"ptosis of the left eyelid",
"bilateral necrosis of the neck of femur",
"bilateral necrosis of the femur neck",
"bilateral necrosis of femur neck"
] | null | [
"Indian subcontinent",
"Hindu",
"Indian",
"sub-continent"
] | [
"G.C."
] | [
"Unfortunately, we were unable to do the enzyme study",
"lost in the follow-up"
] |
gaucher:20062664 | Pseudogaucher cells obscuring multiple myeloma: a case report. | [
"Gaucher-like or pseudo-Gaucher cells have been noted in a variety of conditions including acute lymphoblastic leukemia, Hodgkin's disease, thalassemia, and multiple myeloma. They have an eccentric, lobulated nucleus, foamy cytoplasm but lack the tubular inclusions seen in Gaucher cells. The pseudo-Gaucher cells 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-like or pseudo-Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"acute lymphoblastic leukemia",
"Hodgkin's disease",
"thalassemia",
"multiple myeloma"
] | null | null | null | [
"Indian",
"Aryan"
] | null | [
"normal pathways for its removal may be saturated"
] |
gaucher:20049531 | Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? | [
"A 5-year-old girl was referred to the Department of Pediatrics and Neonatology, Guglielmo da Saliceto Hospital, Italy, because of growth retardation. Clinical and laboratory investigations showed pallor, hepatosplenomegaly, anemia and low/normal platelet count. Further investigations led to the diagnosis of Gauche... | [
"<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 5-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Gaucher disease (GD)",
"GD",
"GD",
"metabolic disorder",
"GD",
"endocrine pathology"
] | null | [
"growth retardation",
"pallor",
"hepatosplenomegaly",
"bone age had normalized",
"linear growth rate had accelerated",
"compromised growth"
] | [
"1 year of imiglucerase replacement enzyme therapy",
"imiglucerase"
] | [
"Italy"
] | [
"anemia",
"low/normal platelet count",
"growth hormone deficiency",
"insulin growth factor-1 (IGF-1) and",
"growth hormone deficiency, had normalized",
"growth hormone deficiency",
"Growth hormone deficiency"
] | null |
gaucher:20049530 | Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries. | [
"Ultrastructural study of skin biopsies in two cases of Gaucher disease (GD) patients (types II and III) revealed hitherto unknown alteration of the blood capillary endothelial cells (ECs) featured by hypertrophy and numerous subplasmalemmal microvesicles underneath both the apical and basal membranes. There was al... | [
"<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 Ultrastructural study of skin biopsies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Gaucher disease (GD)",
"types II and III)",
"GD",
"GD"
] | null | [
"Regressive changes with EC breakdown",
"pronounced changes in capillary architecture with loose or incomplete EC anchoring",
"significant positive growth effect on EC",
"EC involvement",
"endothelial dysfunction"
] | null | null | [
"GBA1 deficiency"
] | [
"Lysosomal storage was always absent"
] |
gaucher:23858612 | [High dose of enzyme replacement therapy was successful for the pulmonary involvement in a case of type 2 Gaucher disease]. | [
"Pulmonary involvement is a serious complication in Gaucher disease, as is neuronopathic involvement. Few reports are available, however, on the frequency, clinical course and therapy for pulmonary involvement in patients with Gaucher disease. We report a case of type 2 Gaucher disease with severe hepatosplenomegal... | [
"<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 involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Gaucher disease",
"Gaucher disease",
"type 2 Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"serious pulmonary involvement"
] | [
"genotype is L444P/unknown"
] | [
"Pulmonary involvement",
"neuronopathic involvement",
"pulmonary involvement",
"severe hepatosplenomegaly",
"hypertonia",
"psychomotor retardation",
"hepatosplenomegaly",
"were markedly improved",
"respiratory impairment",
"decrease of tidal volume",
"low SpO2 during sleep",
"bilateral ground-... | [
"Enzyme replacement therapy (ERT) with intravenous imiglucerase at 78 U/kg/2weeks",
"6 months of therapy",
"8 months of therapy",
"increased the dosage of imiglucerase from 50 to 75 U/kg/2 weeks",
"dosage of imiglucerase",
"is 60 U/kg/2 weeks",
"higher ERT dosage"
] | [
"Japan"
] | [
"anemia",
"low serum beta-glucocerebrosidase activity (patient, 0.8; control, 4.1-9.7 nmol/mg.protein/hr)",
"laboratory abnormalities",
"Serum acid phosphatase and angiotensin converting enzyme levels mildly increased"
] | [
"without signs of respiratory infection"
] |
gaucher:20039062 | Munchausen syndrome by proxy mimicking as Gaucher disease. | [
"Although rare, Munchausen syndrome by proxy (MBP) is a potentially life-threatening form of child abuse. Here, we report a 19-month-old female infant who presented with hepatosplenomegaly, anemia, thrombocytopenia, and recurrent septicemia. She was initially thought to have myelodysplastic syndrome. Further hemato... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although rare, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Munchausen syndrome by proxy (MBP)\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"Munchausen syndrome by proxy (MBP)",
"Gaucher disease",
"MBP",
"MBP",
"MBP",
"Gaucher disease",
"MBP",
"metabolic diseases",
"Gaucher disease"
] | null | [
"life-threatening form of child abuse",
"hepatosplenomegaly",
"recurrent septicemia",
"recurrent sepsis with numerous gram negative rods",
"significant improvement"
] | [
"was separated from the mother for a week",
"spitting in local herbs and injecting it into the central line"
] | null | [
"anemia",
"thrombocytopenia",
"beta-Glucosylceramidase enzyme activity on dried blood spot"
] | [
"initially thought to have myelodysplastic syndrome",
"hematological and immunological investigations revealed no cause",
"enzyme level on cultured skin fibroblast was not consistent with Gaucher disease"
] |
gaucher:20004867 | Gaucher disease patient with myoclonus epilepsy and a novel mutation. | [
"The N188S mutation in Gaucher disease is associated with myoclonus epilepsy. We performed genetic analysis on a patient with progressive myoclonus epilepsy, who had received antiepileptic drugs for over 10 years. We detected N188S/G199D on the gene encoding glucocerebrosidase. Mutant proteins carrying each mutatio... | [
"<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 N188S mutation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease",
"Gaucher disease"
] | [
"N188S mutation",
"N188S/G199D on the gene encoding glucocerebrosidase",
"G199D",
"G199D is a novel mutation"
] | [
"myoclonus epilepsy",
"progressive myoclonus epilepsy"
] | [
"received antiepileptic drugs for over 10 years"
] | null | [
"residual activities",
"glucocerebrosidase with the N188S mutation",
"exhibited 50% activity of the wild type",
"7.4%"
] | [
"Neither mutation influenced the stability of the enzyme protein"
] |
gaucher:19958275 | Intrapelvic mass causing femoral compression neuropathy in a patient with Gaucher disease: a case report. | [
"Gaucher disease is a lysosomal storage disorder in which glucocerebroside accumulates within the macrophages in any part of the body. Varying degrees of skeletal involvement may occur besides anemia, coagulation abnormalities and hepatosplenomegaly. Most of the factors influencing the quality of life in a patient ... | [
"<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",
"Gaucher disease",
"neurogenic forms of the disease"
] | null | [
"skeletal involvement",
"hepatosplenomegaly",
"bone involvement",
"soft tissue masses around bones which are involved by the disease",
"large intrapelvic mass originating from left iliac bone",
"femoral compression neuropathy",
"neurological involvement",
"subacute",
"neurological impairment caused ... | null | null | [
"anemia",
"coagulation abnormalities"
] | null |
gaucher:19949128 | Total hip replacement in Gaucher's disease: effects of enzyme replacement therapy. | [
"Total hip replacement in patients with Gaucher's disease with symptomatic osteonecrosis of the femoral head is controversial because of the high early failure rates. We describe four patients who had an uncemented total hip replacement following enzyme replacement therapy for a median of two years and one month (1... | [
"<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 Total hip replacement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"symptomatic osteonecrosis of the femoral head",
"bone had a normal appearance and consistency"
] | [
"Total hip replacement",
"uncemented total hip replacement following enzyme replacement therapy for a median of two years and one month (1 to 9.8 years) prior to surgery",
"remained on treatment",
"acetabular revision was carried out after 11 years and eight months",
"initiating enzyme replacement therapy a... | null | null | null |
gaucher:19914435 | Effective desensitization to imiglucerase in a patient with type I Gaucher disease. | [
"We describe a child who had anaphylactic hypersensitivity to imiglucerase therapy for Gaucher disease. Treatment was stopped and symptoms returned. After immune desensitization to imiglucerase using a rush protocol, the patient was able to resume treatment and has not had further hypersensitivity complications to ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Gaucher disease"
] | null | [
"anaphylactic hypersensitivity to imiglucerase therapy",
"symptoms returned"
] | [
"Treatment was stopped",
"immune desensitization to imiglucerase using a rush protocol",
"resume treatment"
] | null | null | [
"not had further hypersensitivity complications"
] |
gaucher:19898952 | Substrate deprivation therapy in juvenile Sandhoff disease. | [
"Substrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited experience is available in Sandhoff disease. We initiated substrate deprivation therapy in one male patient, who initially presented at the age of 3.5 years with epile... | [
"<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 Substrate deprivation therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"lysosomal storage diseases",
"Gaucher disease",
"Sandhoff disease",
"Juvenile Sandhoff disease",
"Sandhoff disease"
] | [
"homozygous HEXB gene mutation"
] | [
"epilepsy",
"regression in motor skills and speech development",
"clinical course remained stable for years",
"mild proximal myopathy",
"stable mental retardation",
"progressively worsening general condition",
"diminishing muscle power",
"progressive ataxia",
"stable neurological picture",
"subjec... | [
"Substrate deprivation therapy",
"substrate deprivation therapy",
"epilepsy was controlled",
"with the N-alkylated imino sugar miglustat",
"Diarrhoea",
"treated with lactose restriction",
"of therapy",
"miglustat"
] | null | [
"decreased hexosaminidase activity in leukocytes",
"inhibiting the glucosylceramide synthase",
"enzyme for the synthesis of glycosphingolipids"
] | [
"without further regression in his motor development, ataxia or intelligence",
"no change in the quality of life score",
"not further deteriorate"
] |
gaucher:19864213 | Niemann-Pick disease, type B with TRAP-positive storage cells and secondary sea blue histiocytosis. | [
"We present 2 cases of Niemann Pick disease, type B with secondary sea-blue histiocytosis. Strikingly, in both cases the Pick cells were positive for tartrate resistant acid phosphatase, a finding hitherto described only in Gaucher cells. This report highlights the importance of this finding as a potential cytochem... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 2 cases 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 Niemann Pick disease, type B\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Niemann Pick disease, type B",
"Niemann Pick disease"
] | null | null | null | null | null | null |
gaucher:19816973 | Gaucher disease with communicating hydrocephalus and cardiac involvement. | [
"A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve ... | [
"<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 14-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher disease"
] | [
"homozygous D409H mutation",
"homozygous D409H mutation"
] | [
"hydrocephalus",
"corneal opacities",
"cirrhosis",
"cardiac valvular involvement",
"severe calcification of the aortic root",
"died",
"Cardiac abnormalities"
] | [
"surgery for aortic and mitral valve replacement",
"explorative cardiac surgery",
"therapy with enzyme replacement",
"cardiac corrective surgery"
] | null | null | [
"no successful valve replacement was performed"
] |
gaucher:19736544 | Type I Gaucher disease (GDI) in three siblings: enzyme replacement treatment (ERT) required. | [
"(Full text is available at http://www.manu.edu.mk/prilozi). This is a family of three children, born to healthy Macedonian parents after uneventful pregnancies and delivery. The index child was an eight-year-old girl admitted for abdominal discomfort and distension: the spleen was 14cm below the costal margin (BCM... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">(Full text is available at http://www.manu.edu.mk/prilozi). This is 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 family of\n <span style=\"font-size:... | [
"GD1",
"GD",
"GD1",
"Gaucher disease"
] | [
"N370S mutation"
] | [
"abdominal discomfort",
"distension",
"spleen was 14cm below the costal margin (BCM), the liver 8cm BCM",
"bone involvement"
] | [
"uneventful pregnancies and delivery",
"splenectomized",
"Removing an important immune organ (the spleen)",
"ERT",
"siblings",
"enzyme replacement therapy"
] | [
"Macedonian",
"Macedonia"
] | [
"mild pancytopaenia (hemoglobin 11.2 gm/L; WBC counts 4.6 x 10;3; platelets 70 x 10;3)",
"low activity (2.59, 1.62, and 2.55 nmol/h/mg protein, respectively)",
"plasma chitotriosidase levels were also elevated"
] | [
"No bone pain or pathology was reported",
"Liver function tests",
"chest radiograph were within normal limits",
"absence of available enzyme replacement treatment (ERT)"
] |
gaucher:19734074 | Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare. | [
"Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence of type 2 GD (GD2) in four ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher disease (GD)",
"type 1 GD",
"type 2 GD (GD2)",
"pregnancies",
"GD2",
"GD2",
"GD2",
"GD2"
] | [
"two heterozygous glucocerebrosidase mutations",
"homozygosity for certain Ashkenazi alleles might be lethal",
"homozygous L444P"
] | [
"neurologic manifestations"
] | null | [
"Jewish Ashkenazi",
"Jewish",
"Israel",
"Ashkenazi Jewish",
"Ashkenazi Jews",
"Israeli",
"Jewish Ashkenazi",
"Ashkenazi Jews"
] | null | null |
gaucher:22666685 | Gaucher's disease diagnosed by splenectomy. | [
"Splenectomy continues to find common therapeutic indications for hematologic disorders. In addition, recently it is also performed in surgical clinics to assist diagnose of some illnesses. Gaucher's disease, especially Type I, is the most frequently encountered lysosomal storage disorder in man. Manifestations 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 Splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"hematologic disorders",
"Gaucher's disease",
"Type I",
"lysosomal storage disorder",
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"splenomegaly",
"hepatomegaly",
"bone disease"
] | [
"Splenectomy",
"splenectomy",
"surgery"
] | null | [
"anaemia",
"thrombocytopenia",
"hypersplenism"
] | null |
gaucher:19634291 | Gaucher's disease. | [
"Gaucher's disease is the most common group of lysosomal storage disorders caused by defective activity of an enzyme beta-glucosidase leading to accumulation of glucocerebroside in cells of macrophage lineage. Accumulation of glucosylceramide in tissues leads to multisystem organ involvement viz. liver, spleen, bon... | [
"<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",
"Gaucher's disease",
"Gaucher's disease"
] | null | null | [
"enzyme replacement"
] | [
"India"
] | [
"defective activity of an enzyme beta-glucosidase",
"Serum beta=glucosidase levels <15% of mean normal activity"
] | null |
gaucher:19618314 | A patient with parkinsonism related to Gaucher's disease type I successfully treated by unilateral pallidotomy - a 3-year follow-up. | [
"Gaucher's disease is the most common hereditary lysosomal storage disorder and presents with a wide clinical spectrum including parkinsonism. We present a patient first diagnosed with idiopathic Parkinson's disease at the age of 38 due to left-sided bradykinesia and rigidity. But thereafter the diagnosis of Gauche... | [
"<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",
"parkinsonism",
"idiopathic Parkinson's disease",
"Gaucher's disease type I",
"severe parkinsonism"
] | [
"hereditary"
] | [
"left-sided bradykinesia and rigidity",
"parkinsonian symptoms worsened",
"immediately improved",
"mild parkinsonism"
] | [
"surgical treatment",
"right-sided posteroventrolateral pallidotomy",
"surgery was uneventful",
"surgical treatment"
] | null | null | [
"Despite the optimal enzyme replacement therapy",
"independent in all activities of daily living"
] |
gaucher:19590844 | [Cerebellar syndrome in Gaucher's disease]. | [
"This is a report on a 37-year-old female patient with enzymatically verified Gaucher's disease. The clinical symptoms corresponded to the neuronopathic form of the disease (type 3). A progressive cerebellar syndrome had been developing for 1 year. So far, there have been no records of complex cerebellar symptoms i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is a report on 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 37-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Gaucher's disease",
"neuronopathic form of the disease (type 3)",
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"progressive cerebellar syndrome",
"complex cerebellar symptoms",
"cerebellar symptoms"
] | null | null | null | [
"ruling out other differential diagnoses"
] |
gaucher:21938170 | Gaucher's disease with uncommon presentations. | [
"Gaucher's disease is the most common lysosomal storage disorder gene defect, which leads to deficiency or decreased activity of glucocerebrosidase, followed by accumulation of glucosylceramide. There is autosomal recessive transmission leading to varied clinical manifestations. This disease has three main types: T... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher'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",
"Type I - nonneuronopathic",
"type II - acute neuronopathic",
"type III - chronic neuronopathic",
"nonneuronopathic type",
"Gaucher's disease"
] | [
"gene defect",
"autosomal recessive transmission"
] | null | [
"enzyme replacement therapy"
] | null | [
"deficiency or decreased activity of glucocerebrosidase"
] | null |
gaucher:19562501 | IgM monoclonal component associated with type I Gaucher disease resolved after enzyme replacement therapy: a case report. | [
"The frequency of monoclonal gammopathy of undetermined significance (MGUS) is higher in patients with type I Gaucher disease (GD I) than in the general population. Although enzyme replacement therapy is effective in the control of the disease, its effect on MGUS is still controversial. We present the case of a 65-... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The frequency 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 monoclonal gammopathy of undetermined significance (MGUS)\n <span style=\"font-size: 0.8e... | [
"monoclonal gammopathy of undetermined significance (MGUS)",
"type I Gaucher disease (GD I)",
"MGUS",
"extensive GD I",
"IgM MGUS",
"Gaucher disease"
] | null | [
"chronic antigenic stimulation"
] | [
"enzyme replacement therapy",
"enzyme replacement therapy",
"enzyme replacement therapy"
] | null | [
"eradicating the monoclonal component",
"gammopathies"
] | null |
gaucher:19557545 | Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process. | [
"We report a female patient with Gaucher disease (GD) type I on ERT (imiglucerase) for 5 years, which led to a significant general improvement. Aged 59 years she underwent an episode of altitude sickness followed by sepsis, disseminated intravascular coagulation, and multiorgan failure. She succumbed to a cerebral ... | [
"<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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease (GD) type I",
"liver cholestatic cirrhosis",
"multifocal liver carcinoma",
"cholangiocarcinoma",
"GD cell pathology"
] | null | [
"significant general improvement",
"altitude sickness",
"sepsis",
"multiorgan failure",
"cerebral haemorrhage"
] | [
"ERT (imiglucerase) for 5 years",
"ERT"
] | null | [
"disseminated intravascular coagulation"
] | null |
gaucher:19513999 | Parkinsonism in Gaucher's disease type 1: ten new cases and a review of the literature. | [
"Parkinsonism has been described in patients with Gaucher's disease (GD). We reviewed the 10 cases of patients with both parkinsonism and GD recorded in the French national GD registry, as well as 49 previously published cases. Relative to the general population, parkinsonism in GD patients (1) was more frequent, (... | [
"<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 Parkinsonism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Parkinsonism",
"Gaucher's disease (GD)",
"parkinsonism",
"GD",
"parkinsonism",
"GD",
"parkinsonism"
] | null | [
"signs of cortical dysfunction"
] | null | null | null | [
"responded less well to levodopa",
"Enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) were ineffective on GD-associated parkinsonism",
"for ERT or SRT"
] |
gaucher:19471915 | Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia. | [
"A 13-month-old boy with Gaucher disease presented with severe thrombocytopenia, anemia and massive splenomegaly. In addition he had significant respiratory compromise caused by abdominal compartment syndrome, requiring mechanical ventilation. Because of the degree of respiratory compromise and his existing bone ma... | [
"<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 13-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Gaucher disease",
"Gaucher disease"
] | null | [
"massive splenomegaly",
"significant respiratory compromise",
"abdominal compartment syndrome",
"respiratory compromise",
"bone marrow suppression",
"70% ablation achieved",
"splenic size had decreased from 18 cm to 8 cm",
"massive splenomegaly",
"bone marrow suppression"
] | [
"mechanical ventilation",
"splenic artery embolization",
"alternative to splenectomy",
"Splenic artery embolization",
"355-500-microm polyvinyl alcohol particles",
"Partial splenic embolization",
"minimally invasive alternative to splenectomy"
] | null | [
"severe thrombocytopenia",
"anemia",
"platelet count had risen to greater than 70,000/mm(3) and to more than 170,000/mm(3)",
"platelet count of 578,000/mm(3)"
] | null |
gaucher:19455402 | Chitotriosidase plasma activity in nephropathic cystinosis. | [
"Chitotriosidase is a fully active chitinase produced and secreted by activated phagocytes. Plasma chitotriosidase activity is a well-established marker of total disease burden in Gaucher disease that has proved useful in monitoring the response to both enzyme replacement and substrate reduction therapies in patien... | [
"<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 Chitotriosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"Gaucher disease",
"lysosomal and non lysosomal disorders",
"Cystinosis",
"rare multisystemic lysosomal storage disease",
"nephropathic cystinosis",
"cystinosis",
"cystinosis"
] | null | null | [
"enzyme replacement and substrate reduction therapies",
"initiation of oral cysteamine (Cystagon) treatment",
"14 months' treatment",
"oral cysteamine treatment"
] | null | [
"Chitotriosidase",
"fully active chitinase produced and secreted by activated phagocytes",
"Plasma chitotriosidase activity",
"Increased chitotriosidase plasma activity",
"plasma chitotriosidase activity",
"Increased plasma chitotriosidase activity (481 nmol/h per ml; normal range 0-150 units)",
"it cor... | null |
gaucher:19407439 | The management of Gaucher disease in developing countries: a successful experience in Southern Brazil. | [
"Gaucher disease (GD) is a genetic disease caused by glucocerebrosidase deficiency. GD is treated by enzyme replacement therapy (ERT) with imiglucerase, a high-cost drug provided by the Brazilian Ministry of Health (BMH). This study reports the implementation of the BMH guidelines for GD in the southernmost state o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"GD",
"GD",
"GD",
"GD",
"GD",
"rare diseases"
] | [
"genetic disease"
] | [
"clinical and laboratorial response"
] | [
"enzyme replacement therapy (ERT) with imiglucerase, a high-cost drug",
"on ERT (mean dosage of imiglucerase = 51.8 U/kg/infusion)",
"amount of imiglucerase",
"receiving ERT in the reference center at month 36 (mean dosage of imiglucerase = 27.5 U/kg/infusion)",
"ERT",
"lower dosage of imiglucerase since ... | [
"Brazil"
] | [
"glucocerebrosidase deficiency",
"anemia",
"thrombocytopenia",
"anemia",
"thrombocytopenia"
] | [
"not deteriorate"
] |
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