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:19371812 | Alternative indications for bisphosphonate therapy. | [
"Bisphosphonates are currently used in the treatment of osteoporosis (postmenopausal and steroid-induced), hypercalcemia of malignancy, Paget's disease of bone, multiple myeloma, and skeletally related events associated with metastatic bone disease in breast, prostate, lung, and other cancers. There are, however, n... | [
"<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 Bisphosphonates\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"osteoporosis",
"(postmenopausal and steroid-induced)",
"hypercalcemia of malignancy",
"Paget's disease of bone",
"multiple myeloma",
"cancers",
"giant cell lesions of the jaws",
"giant cell tumors of the appendicular skeleton",
"pediatric osteogenesis imperfecta",
"fibrous dysplasia",
"Gaucher'... | null | [
"skeletally related events associated with metastatic bone disease in breast, prostate, lung",
"decrease in bone remodeling",
"osteolysis surrounding failing orthopedic implants"
] | [
"Bisphosphonates",
"bisphosphonates",
"bisphosphonate therapy",
"bisphosphonates",
"adjunctive treatment",
"bisphosphonate therapy",
"bisphosphonates to augment integration"
] | null | null | null |
gaucher:19375198 | [Voluminous nodular splenomegaly in Gaucher disease: a case report]. | [
"Patients affected by type 1 Gaucher disease (an autosomal recessive inheritance lysosome storage disorder) develop nodular splenomegaly in 20 to 30% of cases where imiglucerase therapy proves ineffective. The lack of response to imiglucerase therapy on spleen nodules could be an indication of the existence or deve... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients affected by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"type 1 Gaucher disease",
"malignant spleen",
"Gaucher disease"
] | [
"autosomal recessive inheritance lysosome storage disorder"
] | [
"nodular splenomegaly",
"voluminous splenic nodule"
] | null | null | null | [
"imiglucerase therapy proves ineffective",
"lack of response to imiglucerase therapy on spleen nodules",
"therapy was delayed"
] |
gaucher:19300287 | Osteonecrosis and antiphospholipid syndrome. | [
"Osteonecrosis (ON), or avascular necrosis of bone, has been related to decreased blood flow to the bone. Many local and systemic factors have been implicated in the pathogenesis of ON, involving corticosteroid therapy, systemic lupus erythematosus (SLE), hemoglobinopathies, alcohol abuse, Caisson disease, 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 Osteonecrosis (ON)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Osteonecrosis (ON)",
"systemic lupus erythematosus (SLE)",
"hemoglobinopathies",
"alcohol abuse",
"Caisson disease",
"Gaucher disease",
"primary antiphospholipid syndrome (PAPS)",
"ON",
"thrombotic microangiopathy",
"PAPS"
] | null | [
"avascular necrosis of bone",
"decreased blood flow to the bone",
"ON initially on the femoral head, and later on the humeral head"
] | [
"corticosteroid therapy"
] | null | [
"hypercoagulability states",
"high levels of anticardiolipin antibodies (aCL), beta-2-glycoprotein 1 antibodies",
"positive lupus anticoagulant"
] | [
"no history of corticosteroid therapy",
"without other risk factors"
] |
gaucher:19276638 | Recurrent cystic hygroma with hydrops. | [
"A patient whose 5 fetuses, including a set of twins, were affected by cystic hygroma (CH) and hydrops is presented.",
"A 39-year-old gravida 12 para 7, 2, 2, 8 was followed through her pregnancies. Both patient and her spouse are of Ashkenazi Jewish descent and are non-consanguineous. The spouse has Gaucher dise... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient whose \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 fetuses, including a set of twins, were affected by cystic hygroma (CH)\n <span style=\"... | [
"hydrops",
"pregnancies",
"pregnancies",
"Gunther's disease",
"recurrent CH",
"aneuploidy",
"pregnancy",
"recurrent CH"
] | [
"autosomal recessive disorder"
] | [
"septated CH in 3 fetuses"
] | [
"on replacement therapy",
"products of conception"
] | null | null | [
"not a carrier of any known allele of Gaucher disease",
"Noonan syndrome",
"Fryns syndrome",
"low normal levels of glucocerebrosidase",
"no known Gaucher mutation",
"normal karyotype"
] |
gaucher:19267217 | Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis. | [
"Haemophagocytic lymphohistiocytosis (HLH) is a rare and rapidly progressive disease which, untreated, invariably leads to death. Gaucher disease is a rare lysosomal storage disorder. The acute neuronopathic variant; type II, is also rapidly progressive. We report an infant with Gaucher disease type II manifesting ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Haemophagocytic lymphohistiocytosis (HLH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Haemophagocytic lymphohistiocytosis (HLH)",
"rapidly progressive disease",
"Gaucher disease",
"rare lysosomal storage disorder",
"acute neuronopathic variant; type II",
"rapidly progressive",
"Gaucher disease type II",
"HLH"
] | null | [
"death"
] | null | null | [
"deficiency of Munc 13-4, an intracellular protein responsible for docking of secretory lysosomes"
] | null |
gaucher:19213078 | Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma. | [
"Gaucher disease (GD) is a lysosomal storage disease characterized by deficiency of beta-glucocerebrosidase, which results in accumulation of glucocerebroside in reticuloendothelial system, bone marrow infiltration, progressive hepatosplenomegaly, and skeletal complications. Herein we report a 5-year-old female 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 Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disease",
"GD"
] | null | [
"progressive hepatosplenomegaly",
"skeletal complications",
"giant mesenteric lymphadenopathies"
] | [
"enzyme replacement therapy"
] | null | [
"deficiency of beta-glucocerebrosidase"
] | null |
gaucher:19201216 | Familial hypophosphatemic vitamin D-resistant rickets--prevention of spontaneous dental abscesses on primary teeth: a case report. | [
"Familial hypophosphatemic vitamin D-resistant rickets is a hereditary disease generally transmitted as an X-linked dominant trait and characterized by distinctive general clinical signs. Dental features include spontaneous dental abscesses that occur in the absence of a history of trauma or dental decay. The chall... | [
"<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 Familial hypophosphatemic vitamin D-resistant rickets\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Familial hypophosphatemic vitamin D-resistant rickets",
"hypophosphatemic",
"familial hypophosphatemic rickets"
] | [
"hereditary disease",
"transmitted as an X-linked dominant trait"
] | [
"distinctive general clinical signs",
"spontaneous dental abscesses",
"abscesses",
"prevented abscess formation for more than 1 year",
"spontaneous abscesses on primary teeth"
] | [
"application of fluid resin composites with a self-etching primer bonding system to all primary teeth"
] | null | null | [
"absence of a history of trauma or dental decay",
"avoided endodontic treatment or extraction"
] |
gaucher:19192653 | Enzyme replacement therapy for Gaucher's disease in patient treated for non-small cell lung cancer. | [
"Gaucher's disease (GD) is an autosomal recessive lysosomal storage disease resulting in an abnormal accumulation of glucocerebrosides in macrophages. Recent studies have reported that patients with GD are at an increased risk of developing malignancies. Here, a rare case of a patient with Type I GD who developed a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher's disease (GD)",
"lysosomal storage disease",
"GD",
"malignancies",
"Type I GD",
"adenocarcinoma of the lung",
"nonsmall cell lung cancer",
"GD",
"solid tumors",
"GD"
] | [
"autosomal recessive"
] | [
"unusually severe hematological toxicity to chemotherapy",
"hematological toxicity"
] | [
"chemotherapy, radiotherapy",
"biological agents inhibiting receptor tyrosine kinases",
"early glucocerebrosidase replacement therapy",
"cytotoxic or targeted therapy for cancer"
] | null | [
"Pancytopenia"
] | [
"without the GD defect"
] |
gaucher:19177047 | Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease. | [
"The natural history and clinical presentation of the perinatal-lethal Gaucher's disease, a severe variant of acute type 2 Gaucher's disease, is quite different from classic type 2 Gaucher's disease. Rare reported patients had an overlapping phenotype between these two forms confirming that phenotyping may be diffi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The natural history and clinical presentation of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n perinatal-lethal Gaucher's disease\n <span style=\"fo... | [
"perinatal-lethal Gaucher's disease",
"severe variant of acute type 2 Gaucher's disease",
"classic type 2 Gaucher's disease",
"classic type 2 Gaucher's disease"
] | null | [
"cholestatic jaundice",
"hepatosplenomegaly",
"death",
"severe liver involvement",
"lung disease",
"ichthyosis",
"facial dysmorphism",
"neurological degeneration course",
"survival"
] | null | null | null | [
"absence of neurological symptoms"
] |
gaucher:19029690 | A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease. | [
"Gaucher disease (GD) is an autosomal recessive inborn error of metabolism, resulting from a deficiency of the enzyme glucocerebrosidase, causing an accumulation of the glycolipid glucocerebroside within lysosomes of macrophages in the reticuloendothelial system. Three major clinical forms have been assigned and mo... | [
"<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)",
"moderate-severe type 1 GD"
] | [
"autosomal recessive inborn error of metabolism",
"gene mutations",
"novel combined mutation L371V/Rec-NciI"
] | null | [
"enzyme replacement therapy with imiglucerase",
"Imiglucerase"
] | [
"Lebanese"
] | [
"deficiency of the enzyme glucocerebrosidase",
"optimal growth, platelet count, and hemoglobin level"
] | null |
gaucher:18810981 | Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report). | [
"Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and results from a genetic deficiency of the enzyme glucocerebrosidase (glucosylceramidase). We report a 10-year old Iranian girl with chief complaint of anemia from 8 years ago, managed for iron deficiency anemia. The patie... | [
"<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 lipid storage disorder",
"Gaucher disease"
] | [
"genetic deficiency of the enzyme glucocerebrosidase (glucosylceramidase)"
] | [
"hepatomegaly",
"huge splenomegaly"
] | [
"treatment with CEREZIME, a recombinant DNA modified form of glucocerebrosidase"
] | [
"Iranian"
] | [
"anemia",
"iron deficiency anemia",
"Low level of beta-glucocerebrosidase enzyme activity"
] | [
"No skeletal disorder was found"
] |
gaucher:18777184 | Functional retinal changes in Gaucher disease. | [
"In Gaucher disease, sphingolipid glucosylceramide is accumulated in cells of the reticulo-endothelial system. This leads to the formation of \"Gaucher cells,\" which are enlarged macrophages. In the eye, circumscript preretinal deposits are a pathognomonic feature. We describe the case of a 23-year-old woman with ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease",
"Gaucher"
] | null | [
"reduced ERG response"
] | null | null | null | [
"no subjective complaints"
] |
gaucher:21897802 | Splenomegaly as a primary manifestation of Gaucher disease in a young adult woman. | [
"Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity of acid β-glucosidase, which results in the accumulation of lipid glucocerebroside in macrophages throughout the body. In this case report we describe the case of a young adult woman with splenomegaly as the primar... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disease",
"type 1 Gaucher disease",
"Gaucher disease"
] | null | [
"splenomegaly",
"age-independent involvement of the visceral organs"
] | [
"long and complex management"
] | null | [
"defective activity of acid β-glucosidase"
] | [
"lack of primary neurological involvement"
] |
gaucher:18641514 | Creating genetics-based infusion centers: a case study of two models. | [
"In 1993, the first effective enzyme replacement therapy for a genetic disease, Ceredase (Genzyme Corporation, Cambridge, MA), was approved for use in patients with Gaucher disease. Over the next 13 years, enzyme replacement therapy became clinically available for the treatment of Fabry disease, mucopolysaccharidos... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In 1993, the first \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n effective enzyme replacement therapy for a genetic disease\n <span style=\"font-size: 0... | [
"Gaucher disease",
"Fabry disease",
"mucopolysaccharidosis Type I",
"mucopolysaccharidosis Type II",
"mucopolysaccharidosis Type VI",
"glycogen storage disease Type II",
"lysosomal storage diseases",
"lysosomal storage diseases",
"Lysosomal Storage Disease Center for Genetic Infusions"
] | null | null | [
"effective enzyme replacement therapy for a genetic disease",
"Ceredase (",
"enzyme replacement therapy",
"enzyme replacement therapy",
"weekly or biweekly intravenous enzyme replacement therapy",
"comprehensive care involving therapeutic intervention",
"outpatient genetics-based infusion centers",
"N... | null | null | null |
gaucher:20300259 | Gaucher's disease type III C: Unusual cause of intracardiac calcification. | [
"We report a case of intracardiac calcification associated with oculomotor apraxia and corneal deposits in a 12-year-old girl, who presented with dyspnea on exertion, sinusitis, and epistaxis since the age of 6 years. Unusual presentation with multiorgan involvement prompted us to evaluate her in terms of metabolic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 intracardiac calcification\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"metabolic/storage disorder",
"Gaucher's disease"
] | null | [
"intracardiac calcification",
"oculomotor apraxia",
"corneal deposits",
"dyspnea on exertion",
"sinusitis",
"epistaxis",
"multiorgan involvement"
] | null | null | null | null |
gaucher:18579503 | Mitochondriopathy: a rare aetiology of restrictive cardiomyopathy. | [
"When diagnosing a restrictive hypertrophied cardiomyopathy, most echocardiographists consider cardiac amyloidosis as a possible cause, especially after the appearance of 'granular' sparkling echoes on a transthoracic echocardiography. However, other infiltrative diseases (i.e. metabolic myopathies, Gaucher, Hunter... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">When diagnosing 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 restrictive hypertrophied cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: ... | [
"restrictive hypertrophied cardiomyopathy",
"cardiac amyloidosis",
"infiltrative diseases",
"metabolic myopathies",
"Gaucher, Hunter's, and Hurler's diseases",
"storage cardiomyopathies",
"haemochromatosis, Fabry's disease, glycogen storage, and Niemann-Pick disease)",
"restrictive cardiomyopathy"
] | null | [
"'granular' sparkling echoes"
] | null | null | null | null |
gaucher:18572811 | [Gaucher disease type I diagnosed at 63 years old presenting with thrombocytopenia]. | [
"A 63-year-old man who was incidentally found to have thrombocytopenia at a periodic physical examination visited our hospital. The spleen was palpable 3 finger-breadths below the navel level, and the liver was palpable 1 finger-breadth below the right costal margin. Peripheral blood examination showed WBC 2,900/mi... | [
"<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 63-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher disease type I",
"Gaucher disease",
"Gaucher disease"
] | [
"modification of glucocerebrosidase genotype N188S was shown"
] | [
"spleen was palpable 3 finger-breadths below the navel level",
"liver was palpable 1 finger-breadth below the right costal margin",
"splenomegaly"
] | [
"enzyme replacement therapy"
] | [
"Japanese",
"Japanese"
] | [
"thrombocytopenia",
"WBC 2,900/microl, Hb 13.4 g/dl",
"platelets 54 X 10(3)/ microl",
"serum levels of total acid phosphatase and angiotensin converting enzyme were increased",
"Glucocerebrosidase activity was lower than the control level in bone marrow stroma cells",
"thrombocytopenia"
] | [
"neurological examination was normal"
] |
gaucher:18520574 | Pulmonary extramedullary hematopoiesis. | [
"Extramedullary hematopoiesis (EMH) is the formation and development of blood cells outside of the bone marrow. Of particular interest to chest physicians and radiologists is the occurrence of EMH in the lungs and pleura. There have been several reports of patients presenting with pulmonary EMH published in the lit... | [
"<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 Extramedullary hematopoiesis (EMH)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"myeloproliferative disorders",
"hemolytic anemias",
"hereditary spherocytosis",
"Gaucher disease",
"pulmonary EMH",
"uncommon disorder"
] | null | null | null | null | null | null |
gaucher:18426721 | [Gaucher disease: importance of early diagnosis and therapy]. | [
"Gaucher disease is the most common lysosomal storage disorder caused by deficiency of the lysosomal enzyme glucocerebrosidase. By the end of 2006, the total enrollment in the international Gaucher Disease Registry included 4584 patients, 34 of them were Hungarian. The disease has three main types: non neuropathic ... | [
"<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",
"non neuropathic (Type 1)",
"acute neuropathic (Type 2)",
"chronic neuropathic (Type 3)",
"non-neuropathic type",
"Gaucher disease",
"Gaucher disease"
] | null | [
"Early onset of the clinical symptoms and signs",
"severe phenotype",
"irreversible complications",
"stopping disease progression",
"regression of visceral and haematological abnormalities",
"preventing irreversible bone deformities",
"better quality of life",
"severe co-morbidities",
"irreversible ... | [
"Safe and efficient enzyme substitution therapy",
"Optimal dose and early therapy"
] | [
"Hungarian",
"Hungary"
] | [
"deficiency of the lysosomal enzyme glucocerebrosidase"
] | null |
gaucher:18417675 | Pseudo-Gaucher cells in multiple myeloma. | [
"A case of multiple myeloma is reported in which the bone marrow contained sheets of histiocytes with light microscopic features mimicking Gaucher cells. The patient had no clinical evidence of inherited Gaucher's disease. These pseudo-Gaucher cells obscured neoplastic plasma cells causing diagnostic difficulty."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple myeloma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"multiple myeloma"
] | null | null | null | null | null | [
"no clinical evidence of inherited Gaucher's disease"
] |
gaucher:18392747 | Functional antibody deficiency in a patient with type I Gaucher disease. | [
"Gaucher disease (GD), the most common lysosomal storage disorder, demonstrates an autosomal recessive pattern of inheritance. The genetic defect in GD leads to decreased production of the lysosomal enzyme glucosylceramide hydrolase, thereby resulting in the deposition of glucosylceramide sphingolipids within multi... | [
"<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",
"type I GD",
"GD",
"GD",
"common variable immunodeficiency (CVID)"
] | [
"autosomal recessive pattern of inheritance",
"genetic defect"
] | [
"chronic antigenic stimulation",
"recurrent bacterial infections",
"repeated episodes of acute bronchitis",
"recent severe bout of community-acquired pneumonia",
"repeated infections"
] | [
"enzyme replacement therapy",
"lengthy hospitalization"
] | null | [
"decreased production of the lysosomal enzyme glucosylceramide hydrolase",
"hyperimmunoglobulinaemia",
"relatively low serum immunoglobulins",
"impaired antibody production",
"decreased serum IgG, IgG2, and IgA levels",
"reduced absolute CD3(+)/CD4(+), CD3(+)/CD8(+), and lymphocyte counts",
"low IgG tit... | [
"normal response to phytohaemagglutinin,",
"decreased responses to concanavalin A and pokeweed mitogen",
"normal serum immunoglobulin levels and mitogenic responses"
] |
gaucher:18306546 | Gaucher's disease: report of 4 cases. | [
"Review of records for last 5 years has shown 4 cases of Type I Gaucher's disease in our institute. The cases were diagnosed on bone marrow aspiration, examination of splenectomy specimen, liver biopsy and post mortem in one case. The age range was 2 years to 22 years. Male to female ratio was 3:1. Splenectomy was ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Review of records for last 5 years has shown 4 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 I Gaucher's disease\n <span style=\"font-size... | [
"Type I Gaucher's disease"
] | null | [
"splenohepatomegaly",
"splenomegaly greater than hepatomegaly",
"Remarkable constitutional inferiority",
"death",
"acute illness",
"bleeding diathesis"
] | [
"Splenectomy",
"enzyme replacement therapy with high dose, low frequency regimen for six months"
] | [
"Hindus"
] | [
"pancytopenia"
] | [
"without any favorable effect"
] |
gaucher:18287996 | Laparoscopic subtotal splenectomy. | [
"Since 1979, we have been studying subtotal splenectomy. This procedure was used in over 200 patients to treat splenic trauma, portal hypertension, myeloid metaplasia due to myelofibrosis, Gaucher disease, chronic lymphocytic leukemia, retarded growth, and sexual development associated with splenomegaly, and disord... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Since 1979, we have been studying \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n subtotal splenectomy\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"myeloid metaplasia due to myelofibrosis",
"Gaucher disease",
"chronic lymphocytic leukemia",
"disorders of the pancreatic tail"
] | null | [
"splenic trauma",
"portal hypertension",
"retarded growth, and sexual development",
"splenomegaly",
"severe pain due to ischemia of the spleen",
"severe splenic pain",
"ischemia",
"vascular obstruction of the spleen",
"minor bleeding",
"uneventful",
"pain disappeared",
"pain due to splenic isc... | [
"subtotal splenectomy",
"laparoscopic splenectomy with and without splenic autotransplantation",
"open subtotal splenectomy",
"laparoscopic conservative splenic operations",
"laparoscopic subtotal splenectomy",
"laparoscopic subtotal splenectomy",
"preservation of the upper splenic pole supplied only by... | null | null | [
"no technical difficulties or complications"
] |
gaucher:18251007 | [A 56-year-old patient with Gaucher's disease sustaining a pathologic subcapital fracture of the humerus]. | [
"We present a case of a pathologic humerus fracture in a patient with the initial diagnosis of Gaucher's disease, which is the most frequent form of lipidosis transmitted as an autosomal recessive trait. It often results in orthopaedic complications with pain, osteonecrosis, fractures and joint infractions. If ther... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pathologic humerus fracture\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Gaucher's disease",
"lipidosis"
] | [
"transmitted as an autosomal recessive trait"
] | [
"pathologic humerus fracture",
"orthopaedic complications",
"pain",
"osteonecrosis",
"fractures",
"joint infractions"
] | [
"Therapy with a modified enzyme"
] | null | [
"beta-glucocerebrosidase in white blood cells"
] | null |
gaucher:18228687 | [Current development and usefulness of biomarkers for Gaucher disease follow up]. | [
"Gaucher's disease is due to glucocerebrosidase deficiency which is responsible for the accumulation of non degraded glucosylceramide within the lysosomes of macrophages: these \"Gaucher cells\", overloaded and alternatively activated, release in patient's plasma numerous compounds (cytokines, chemokines, hydrolase... | [
"<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"
] | null | [
"tissue damages"
] | [
"treatment by enzyme replacement therapy or substrate reduction therapy)",
"dose adjustments"
] | null | [
"glucocerebrosidase deficiency",
"chitotriosidase",
"chemokine CCL18/PARC",
"chitotriosidase deficient"
] | [
"not receiving specific treatments"
] |
gaucher:18183722 | Imiglucerase treatment in Gaucher's disease. | [
"Gaucher's disease is an inherited lysosomal storage disorder with a deficiency of the enzyme glucocerbrosidase that manifests with clinical features of anemia, hepato-splenomegaly, skeletal destruction and organ dysfunction due to the accumulation of glucocerbrosides. There are several types of Gaucher's disease w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"lysosomal storage disorder",
"Gaucher's disease",
"Type 1 Gaucher disease",
"neuronopathic type",
"Type 1 Gaucher disease"
] | [
"inherited"
] | [
"hepato-splenomegaly",
"skeletal destruction",
"organ dysfunction",
"decrease in splenic size",
"improvement in cardiopulmonary symptoms"
] | [
"enzyme Imiglucerase (Cerezyme, Genzyme)",
"Imiglucerase 60 microg/kg every 2 weeks",
"Imiglucerase",
"reduced requirements for transfusions"
] | [
"Pakistan"
] | [
"deficiency of the enzyme glucocerbrosidase",
"anemia"
] | [
"resistant to therapy"
] |
gaucher:18039610 | [Biochemical and molecular diagnosis of Gaucher disease in Tunisia]. | [
"Our study was carried out at a family from the Sahel (Tunisia). The father (index case) and his two children (son and daughter). The father beta-glucocerebrosidase (GCB) activity showing a deficit. These biochemical analyses are supplemented by molecular studies: enzymatic digestion and the direct sequencing. Two ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Our study was carried out at a family from 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 Sahel\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Gaucher disease type 1"
] | [
", the p.Asn 370 Ser and the p.Leu 444 Pro",
"presence of the homozygous genotype of this p.Asn 370 Ser in the father DNA and the heterozygous one in the two children DNA",
"mutation p.Asn 370 Ser"
] | null | null | [
"Sahel",
"Tunisia"
] | [
"father beta-glucocerebrosidase (GCB) activity showing a deficit"
] | [
"no detection of the 55 pb deletion in exon 9 among all the specimens of DNA treated",
"total absence of neurological involvements"
] |
gaucher:17992047 | Subdural empyema in a case of Gaucher disease: a rare presentation. | [
"Subdural empyema is a surgical emergency; if not recognized and managed early, it may prove fatal. In most of the cases, condition is preceded by paranasal sinusitis, otitis media or trauma. The authors report a previously undescribed case of spontaneous subdural empyema associated with Gaucher disease that had a ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Subdural empyema\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Subdural empyema",
"paranasal sinusitis",
"otitis media",
"spontaneous subdural empyema",
"Gaucher disease",
"Gaucher disease"
] | null | [
"trauma",
"severe bacterial infections"
] | [
"burr hole evacuation of subdural empyema",
"parenteral antibiotics"
] | null | [
"defective function of phagocytic cells",
"hypersplenism"
] | null |
gaucher:17987186 | Pathological fractures; a consideration with metachondromatosis and differential diagnoses. Osteochondromatosis and Gauchers disease. | [
"Metachondromatosis is a condition that causes gross conical metaphyseal expansion (sometimes irregular), cortical thinning, exostoses. Metachondromatous lesions occur mainly in the extremities and are roughly symmetrical. The lesions can involve the bones of the hand and all long bones in the arms and legs. The 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 Metachondromatosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Metachondromatosis",
"metaphyseal dysplasia",
"Gaucher disease",
"Metachondromatosis",
"Gaucher disease",
"Osteochondromatosis",
"Metachondromatosis"
] | null | [
"gross conical metaphyseal expansion (sometimes irregular)",
"cortical thinning",
"exostoses",
"Metachondromatous lesions",
"in the extremities",
"roughly symmetrical",
"lesions can involve the bones of the hand and all long bones in the arms and legs",
"additionally involved the acromion process and ... | null | null | null | [
"little trauma",
"against using long bones as levers for spinal manipulation"
] |
gaucher:17919309 | Non-neuronopathic Gaucher disease due to saposin C deficiency. | [
"Gaucher disease is generally caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The degradation of glycosphingolipids requires also the participation of sphingolipid activator proteins. The prosaposin PSAP gene codes for a single protein which undergoes post-translational cleavage to yield four pro... | [
"<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",
"variant form of Gaucher disease",
"non-neuronopathic Gaucher disease",
"non-neuronopathic Gaucher disease",
"Gaucher type 3"
] | [
"prosaposin PSAP gene",
"post-translational cleavage",
"missense mutation, p.L349P, located in the SAP-C domain and another mutation, p.M1L, located in the initiation codon of the prosaposin precursor protein"
] | null | null | null | [
"deficiency of the lysosomal enzyme glucocerebrosidase",
"sphingolipid activator proteins",
"Saposin (SAP-) C",
"glucosylceramide degradation",
"deficiency",
"SAP-C deficiency",
"Very high levels of chitotriosidase activity, chemokine CCL18",
"increased concentration of glucosylceramide in plasma",
... | [
"normal beta-glucosidase activity in skin fibroblasts"
] |
gaucher:17886025 | Congenital Gaucher disease with nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal hepatitis/fibrosis. Clinicopathologic report with enzymatic and genetic analysis. | [
"The findings in a stillborn female fetus of 31 weeks' gestation with congenital Gaucher disease, nonimmune hydrops/erythroblastosis, infantile arterial calcification, and neonatal hepatitis/fibrosis are presented, the first report of this complete constellation. Prior reports describe two similar patients. One lac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The findings in a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n stillborn female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"congenital Gaucher disease",
"nonimmune hydrops/erythroblastosis",
"Gaucher disease",
"idiopathic infantile arterial calcification"
] | [
"compound heterozygote for a null and a severe mutation",
"mutations of"
] | [
"infantile arterial calcification",
"neonatal hepatitis/fibrosis",
"hepatic fibrosis"
] | null | null | null | [
"lacked the hepatocellular features of giant cell hepatitis",
"lacked hepatic pathology",
"Studies of parental DNA were negative for the D409H mutation of type IIIc Gaucher disease",
"Genetic studies were not performed of the ENPP1 gene"
] |
gaucher:17879146 | Effect of treatment on biclonal gammopathy associated with Gaucher disease. | [
"The non-random association of Gaucher disease with polyclonal and monoclonal gammopathy has been known since 1950. The effect of treatment on monoclonal gammopathy is not well documented. We report on the long-term evolution of a biclonal gammopathy in a patient with type I Gaucher disease who was treated with spl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The non-random association 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Gaucher disease",
"polyclonal and monoclonal gammopathy",
"monoclonal gammopathy",
"biclonal gammopathy",
"type I Gaucher disease",
"polyclonal hypergammaglobulinaemia",
"monoclonal gammopathy"
] | [
"Mutations N370S and R120W"
] | [
"hepatomegaly",
"massive splenomegaly",
"massive splenomegaly (9500 g)",
"significant hepatomegaly",
"cholestasis"
] | [
"splenectomy",
"and enzyme replacement therapy",
"splenectomy",
"splenectomy",
"Enzyme replacement therapy (Cerezyme 45 UI/kg every two weeks)",
"enzyme replacement therapy"
] | null | [
"beta-glucosidase was low in peripheral blood leukocytes",
"two spikes in gammaglobulins",
"two monoclonal components: IgG kappa and IgA kappa"
] | null |
gaucher:17868524 | [Gaucher disease]. | [
"We describe, with a brief thematic review, the case of a 47-year-old woman that was hospitalized to study a clinical picture characterized by massive splenomegaly with asthenia, postprandial fullness, weight loss and edema in the left lower extremity, in which Gaucher disease was diagnosed."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe, with a brief thematic review, the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 47-year-old\n <span style=\"font-size: 0.8em; fon... | [
"Gaucher disease"
] | null | [
"massive splenomegaly",
"asthenia",
"postprandial fullness",
"weight loss",
"edema in the left lower extremity"
] | null | null | null | null |
gaucher:17852447 | Pseudo-Gaucher cells in Hb E disease and thalassemia intermedia. | [
"Pseudo-Gaucher cells are morphologic curiosities described in a number of conditions. We report their presence in a bone marrow biopsy and a spleen from 2 patients with hemoglobin E disease and thalassemia intermedia, respectively. The pathogenesis of these cells and their multiple known associations are discussed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pseudo-Gaucher cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"hemoglobin E disease",
"thalassemia intermedia"
] | null | null | null | null | null | null |
gaucher:17850633 | Movement and mood disorder in two brothers with Gaucher disease. | [
"Gaucher disease (GD) is a lysosomal storage disorder with a wide spectrum of phenotypic presentations. We report the case histories of two adult brothers with GD who developed both parkinsonism and psychiatric symptoms. Direct sequencing and real-time polymerase chain reaction were used to establish that the patie... | [
"<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",
"parkinsonism",
"GD",
"complicated mood disorder",
"comorbidity of GD and a mood disorder",
"GD",
"mental illness",
"parkinsonism"
] | null | [
"parkinsonism",
"psychiatric symptoms",
"atypical features",
"psychiatric manifestations"
] | null | null | null | null |
gaucher:17703372 | Parotid gland involvement, the presenting sign of high grade non-Hodgkin lymphoma in two patients with Gaucher disease and sicca syndrome. | [
"Increased risk of haematological malignancies has been described in Gaucher disease patients; however, high-grade lymphoma has been rarely observed. We report two patients with Gaucher disease and sicca syndrome diagnosed with aggressive lymphoma involving the parotid gland. A 29-year-old woman with Gaucher diseas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Increased risk 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 haematological malignancies\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"haematological malignancies",
"Gaucher disease",
"high-grade lymphoma",
"Gaucher disease",
"sicca syndrome",
"aggressive lymphoma involving the parotid gland",
"Gaucher disease",
"stage IV disease",
"Gaucher disease",
"mantle cell lymphoma",
"second malignancy",
"Gaucher disease",
"haematol... | null | [
"tumour of the left parotid gland",
"chronic arthralgias",
"xerostomia",
"xerophthalmia",
"complete remission for 15 years",
"dry-mouth feeling",
"left parotid gland tumour",
"diffuse lymphadenopathy",
"pleural effusion",
"multiple lung nodules",
"tumour of the parotid gland",
"lymphoma",
"p... | [
"MACOP-B chemotherapy regimen (cyclophosphamide, adriamycin, methotrexate, bleomycin, vincristine, prednisone)",
"Immunochemotherapy with fludarabine, cyclophosphamide and rituximab",
"complete remission"
] | null | null | [
"No lymphadenopathy was found"
] |
gaucher:17675780 | Type I Gaucher disease following chemotherapy for light chain multiple myeloma. | [
"Although plasma cell disorders, such as hypergammaglobulinemia and monoclonal gammopathy of undetermined significance (MGUS), are reported to occur at higher incidences in patients with Type I Gaucher disease (GD) than in the normal population, pure light chain multiple myeloma (LCMM) has never been described in t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n plasma cell disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"plasma cell disorders",
"monoclonal gammopathy of undetermined significance (MGUS)",
"Type I Gaucher disease (GD)",
"pure light chain multiple myeloma (LCMM)",
"LCMM",
"GD"
] | null | [
"clinically apparent GD",
"Renal complications",
"nephrotic syndrome"
] | [
"chemotherapy and hematopoietic stem cell transplantation"
] | null | [
"hypergammaglobulinemia"
] | null |
gaucher:17639894 | Real-time image-guided direct convective perfusion of intrinsic brainstem lesions. Technical note. | [
"Recent preclinical studies have demonstrated that convection-enhanced delivery (CED) can be used to perfuse the brain and brainstem with therapeutic agents while simultaneously tracking their distribution using coinfusion of a surrogate magnetic resonance (MR) imaging tracer. The authors describe a technique for t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Recent preclinical studies have demonstrated that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n convection-enhanced delivery (CED)\n <span style=\"font-... | [
"Type 2 Gaucher disease",
"diffuse pontine glioma",
"intrinsic brainstem",
"central nervous system disorders"
] | null | [
"progressive intrinsic brainstem lesions"
] | [
"convection-enhanced delivery (CED)",
"perfuse the brain and brainstem with therapeutic agents",
"CED of putative therapeutic agents mixed with Gd-diethylenetriamene pentaacetic acid (DTPA)",
"frameless stereotactic placement of MR imaging-compatible outer guide-inner infusion cannulae",
"CED",
"perfuse t... | null | null | [
"clinical or imaging evidence of short- or long-term infusate-related toxicity"
] |
gaucher:17603755 | Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. | [
"Niemann-Pick disease type C (NP-C) is a lipid storage disorder characterized by the accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system of certain cells in the central nervous system (CNS) and visceral organs. Clinical symptoms include progressive neurological deteriorat... | [
"<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 (NP-C)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Niemann-Pick disease type C (NP-C)",
"lipid storage disorder",
"Gaucher disease",
"lysosomal storage diseases affecting the CNS",
"NP-C"
] | null | [
"progressive neurological deterioration",
"visceral organomegaly",
"severe difficulties in swallowing and walking",
"problems mostly affecting communication and social interaction",
"substantial improvement in swallowing",
"improved walking",
"cognitive improvement",
"severe but self-limiting paresthe... | [
"Miglustat",
"small iminosugar molecule",
"miglustat",
"miglustat for 1 year",
"miglustat"
] | null | [
"reversibly inhibits glucosylceramide synthase",
"in glycosphingolipid synthesis",
"Liver/spleen volume and plasma chitotriosidase activities were stabilized"
] | [
"no weight loss",
"not associated with peripheral neuropathy"
] |
gaucher:17574891 | Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family. | [
"Gaucher disease (GD) is the most frequently encountered lysosomal storage disease, caused by autosomal recessive inborn defects in the glucocerebrosidase gene (GBA) at 1q21. The disease is most common in the Ashkenazi Jewish population. GD can present with a vast phenotypic heterogeneity, which can be predicted to... | [
"<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"
] | [
"autosomal recessive inborn defects in the glucocerebrosidase gene (GBA) at 1q21"
] | null | null | [
"Ashkenazi Jewish",
"Lebanese",
"Arab"
] | null | null |
gaucher:17483081 | Pseudo-Gaucher cell proliferation associated with myelodysplastic syndrome. | [
"We report an extremely rare case of pseudo-Gaucher cell proliferation with myelodysplastic syndrome (MDS). A 77-year old Japanese man was referred to our hospital with splenomegaly and thrombocytopenia, and subsequent bone marrow aspiration revealed infiltrates of foamy vacuolated macrophages without any evidence ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report an extremely rare case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pseudo-Gaucher cell proliferation\n <span style=\"font-size: 0.8em; fo... | [
"myelodysplastic syndrome (MDS)",
"MDS",
"refractory anemia",
"MDS"
] | [
"presence of 46,XY,del(20)(q11) in 20 of 20 examined bone marrow cells"
] | [
"splenomegaly"
] | [
"splenectomy"
] | [
"Japanese"
] | [
"thrombocytopenia"
] | [
"without any evidence of other morphologic abnormalities",
"activities of beta-glucosidase and acid sphingomyelinase were within normal ranges"
] |
gaucher:17438664 | Ultrastructural features of gaucher disease treated with enzyme replacement therapy presenting as mesenteric mass lesions. | [
"The classical ultrastructural features of Gaucher disease include large numbers of intracytoplasmic, membrane-bound lysosomal inclusions containing characteristic tubular structures on an electron-lucent background, representing the periodic acid schiff (PAS)-positive Gaucher cells identifiable on light microscopy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The classical ultrastructural features 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\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Gaucher disease",
"Gaucher disease"
] | null | [
"persistent mesenteric lymphadenopathy",
"persistent abdominal lymphadenopathy",
"abdominal lymphadenopathy",
"incomplete clearance"
] | [
"enzyme replacement therapy (ERT)",
"ERT",
"ERT"
] | null | [
"focally positive"
] | [
"PAS staining was negative",
"light microscopy",
"incomplete/partial enzyme replacement"
] |
gaucher:17433057 | Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase/miglustat combination. | [
"Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a deficiency of glucocerebrosidase. The neurologic manifestations of GD patients have to date been refractory to any treatment approach. We present a report of a neuronopathic GD patient whose myoclonic epilepsy improved after combination ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal disorder",
"GD",
"neuronopathic GD",
"type 3 GD",
"neuronopathic forms of GD"
] | [
"autosomal recessive"
] | [
"neurologic manifestations",
"myoclonic epilepsy",
"progressive neurologic deterioration",
"marked myoclonic epilepsy",
"dystonia",
"generalized tonic-clonic seizures decreased",
"speech improved",
"general neurologic clinical picture improved markedly",
"reduction in focal and generalized paroxysma... | [
"combination therapy with imiglucerase and miglustat",
"added miglustat to the enzyme-replacement therapy",
"After 2 years of combined miglustat (200 mg, 3 t.i.d.) and imiglucerase (60 IU/kg every 2 weeks)",
"Combined imiglucerase and miglustat therapy"
] | null | [
"deficiency of glucocerebrosidase"
] | [
"refractory to any treatment approach",
"despite good visceral and analytic response to ERT",
"No significant adverse effects were observed"
] |
gaucher:17397330 | Oral aspects of Gaucher's disease: a literature review and case report. | [
"Gaucher's disease (GD) is a lysosomal storage disease with a high incidence in Ashkenazi Jews. The disease is caused by an autosomally recessive inherited deficiency of the lysosomal enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in macrophages. The lipid-laden macrophages, called Gauch... | [
"<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 disease",
"GD",
"generalized severe chronic periodontitis",
"GD",
"GD"
] | [
"autosomally recessive inherited"
] | [
"recurrent gingival hemorrhage",
"toothache",
"cyst-like lesions in the mandibular premolar-molar regions",
"severe apical root resorption",
"enlargement of the periodontal ligament and bone-marrow spaces",
"loss of trabecular structure and radiopaque appearance of bone",
"abnormally narrow and sharp co... | [
"periodontal treatment",
"oral hygiene motivation and instructions",
"scaling, root planing",
"access flap therapy",
"Periodontal treatment",
"periodontal treatment"
] | [
"Ashkenazi Jews"
] | [
"deficiency of the lysosomal enzyme glucocerebrosidase"
] | [
"absence of clinical symptoms"
] |
gaucher:17252710 | [Morbus gaucher--a report of two cases]. | [
"[corrected] Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918). Deficiency of glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte macrophage system. Lipid-lad... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">[corrected] Clinical features 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 inherited glucocerebrosidase deficiency\n <span style=\"font-size: 0.8em;... | [
"type I Gaucher's disease",
"mild form of the disease)",
"Gaucher's disease",
"Gaucher's disease"
] | [
"inherited glucocerebrosidase deficiency"
] | [
"hepatosplenomegaly",
"multiorgan dysfunction",
"sceletal deterioration",
"hepatosplenomegaly",
"striking phenotypic variation"
] | null | null | [
"Deficiency of glucocerebrosidase"
] | [
"lack of central nervous system involvement",
"not a possibility of testing beta-glucocerebrosidase activity in peripheral leukocytes",
"enzyme replacement therapy had not been available"
] |
gaucher:17236903 | Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy. | [
"A 5-year-old male with Gaucher's disease type 3 developed progressive mesenteric and mediastinal lymphadenopathy over 12 months, despite enzyme replacement therapy, contributing to the development of a protein-losing enteropathy. These complications are unique, indicating poorly accessible, differentially responsi... | [
"<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's disease type 3",
"Gaucher's disease"
] | null | [
"progressive mesenteric and mediastinal lymphadenopathy",
"over 12 months"
] | [
"enzyme therapy"
] | null | [
"protein-losing enteropathy"
] | [
"despite enzyme replacement therapy"
] |
gaucher:17230068 | Matched unrelated bone marrow transplantation without splenectomy for a child with Gaucher disease caused by homozygosity of the L444P mutation, who also suffered from schizencephaly. | [
"Splenectomy followed by bone marrow transplantation (BMT) has been applied successfully in the treatment of neuronopathic Gaucher disease (GD). GD in combination with schizencephaly has not previously been reported. We describe a girl who presented with hemiparesis and oculomotor apraxia since infancy, and thereaf... | [
"<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 followed by bone marrow transplantation (BMT)\n <span style=\"font-size: 0.8em; font-weight: b... | [
"neuronopathic Gaucher disease (GD)",
"GD in combination with schizencephaly",
"GD",
"schizencephaly",
"neuronopathic GD"
] | [
"homozygosity of the L444P mutation"
] | [
"hemiparesis",
"oculomotor apraxia",
"hepatosplenomegaly",
"psychomotor retardation",
"skeletal abnormalities"
] | [
"Splenectomy followed by bone marrow transplantation (BMT)",
"enzyme replacement therapy for 3 years",
"successful matched unrelated BMT without splenectomy",
"strategy of BMT without splenectomy after a period of enzyme replacement"
] | null | [
"progressive anemia",
"thrombocytopenia"
] | null |
gaucher:17196853 | Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles. | [
"Gaucher disease, the most prevalent lysosomal storage disease, results from an inherited deficiency in the enzyme glucocerebrosidase. Three clinical forms of Gaucher disease have been described: Type 1 non-neuronopathic, Type 2 acute neuronopathic, and Type 3 subacute neuronopathic. Although Gaucher disease is pan... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disease",
"Gaucher disease",
"Type 1 non-neuronopathic",
"Type 2 acute neuronopathic",
"Type 3 subacute neuronopathic",
"Gaucher disease",
"Type 1 form",
"Gaucher disease",
"Gaucher disease",
"Type 1",
"Type 2",
"Type 3",
"Type 1",
"Type 1",
"Type ... | [
"inherited deficiency in the enzyme glucocerebrosidase",
"novel mutation, del 205-209ACCTT, was identified in the heterozygous form with mutation R353W (c.1174C>T)",
"Mutation R353W was also found in the heterozygous form",
"Gaucher genotypes",
"F37V/L444P, G46E/L444P, R48W/R120W, N188S/L444P, Y205C/L444P, ... | [
"severe hematological and skeletal complications",
"neurological involvement",
"cardiovascular/ocular involvements"
] | null | [
"panethnic",
"Caucasian",
"Chinese",
"Chinese"
] | null | null |
gaucher:17182061 | Dopaminergic neuronal dysfunction associated with parkinsonism in both a Gaucher disease patient and a carrier. | [
"A clinical association between Gaucher disease and parkinsonism has been demonstrated. We herein report a Japanese patient with type 3 Gaucher disease who was compound heterozygous for F213I and L444P mutations in the glucocerebrosidase gene while his father was heterozygous for the L444P mutation. They both prese... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A clinical association between \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Gaucher disease",
"parkinsonism",
"type 3 Gaucher disease",
"parkinsonism",
"Gaucher disease",
"parkinsonism",
"parkinsonism",
"Parkinson's disease",
"Gaucher disease",
"parkinsonism",
"associated with Gaucher disease"
] | [
"compound heterozygous for F213I and L444P mutations in the glucocerebrosidase gene",
"mutation in the glucocerebrosidase gene",
"even in heterozygosis"
] | [
"predominance of akinetic-rigid signs",
"] CFT uptake to be severely decreased in the putamen and the caudate nucleus",
"presynaptic dopaminergic neuronal dysfunction"
] | [
"anti-Parkinson therapies"
] | [
"Japanese"
] | null | [
"favorable response to anti-Parkinson therapies",
"the [(11)C] raclopride uptake was normal in the basal ganglia",
"refractory to anti-Parkinson therapies"
] |
gaucher:17125641 | Enzyme replacement therapy in a child with Gaucher disease. | [
"This case report describes an experience of using recombinant enzyme in a child who was diagnosed as a case of Gaucher disease at the age of 3 years. Regular enzyme replacement therapy has resulted in marked improvement in his hemoglobin level, absolute neutrophil count, platelets and physical growth."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case report describes an experience 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 using recombinant enzyme\n <span style=\"font-size: 0.8em; fon... | [
"Gaucher disease"
] | null | null | [
"using recombinant enzyme",
"Regular enzyme replacement therapy"
] | null | [
"marked improvement in his hemoglobin level, absolute neutrophil count, platelets and physical growth"
] | null |
gaucher:17106163 | Parkinsonism in type I Gaucher's disease. | [
"The majority of patients with type I Gaucher's disease never develop neurological signs or symptoms. However, several case reports of Parkinson's disease associated with type I Gaucher's disease have been published, suggesting a genetic link between the two diseases. Hence, detailed clinical investigations are req... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The majority of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type I Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"type I Gaucher's disease",
"Parkinson's disease associated with type I Gaucher's disease",
"parkinsonism",
"associated with type I Gaucher's disease"
] | [
"genetic"
] | null | null | [
"Japanese"
] | null | [
"never develop neurological signs or symptoms"
] |
gaucher:17086614 | Bone involvement in generalized crystal-storing histiocytosis. | [
"The abnormal secretion of monoclonal immunoglobulins observed with monoclonal gammopathies and other clonal B cell dyscrasias can be responsible for a spectrum of deposition disorders. Crystal-storing histiocytosis (CSH) is a rare disease affecting patients with B cell dyscrasias and monoclonal gammopathies, chara... | [
"<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 abnormal secretion of monoclonal immunoglobulins\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"monoclonal gammopathies",
"clonal B cell dyscrasias",
"deposition disorders",
"B cell dyscrasias",
"monoclonal gammopathies",
"CSH",
"storage disorders",
"Gaucher disease",
"CSH",
"immunoglobulin deposition disease",
"storage histiocytic disorder"
] | null | [
"multiorgan involvement",
"prominent bone involvement",
"images of avascular necrosis",
"Bone involvement"
] | null | null | [
"abnormal secretion of monoclonal immunoglobulins"
] | null |
gaucher:17072992 | Gallbladder tuberculosis: false-positive PET diagnosis of gallbladder cancer. | [
"Gallbladder tuberculosis (GT) is an extremely rare disease, and very few cases have been reported in the literature. The first case of GT was described in 1870 by Gaucher. A correct preoperative diagnosis of GT is unusual, and it is frequently confused with various gallbladder diseases. We present a new case of a ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gallbladder tuberculosis (GT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Gallbladder tuberculosis (GT)",
"GT",
"GT",
"gallbladder diseases",
"gallbladder cancer"
] | null | null | [
"surgery"
] | null | null | [
"false positive positron emission tomography scan in the diagnostic work-up"
] |
gaucher:17049454 | Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months' oral substrate reduction therapy with miglustat. | [
"We report here the results of 24 months' treatment with oral miglustat of a patient with mild-to-moderate Gaucher's disease (GD) and Parkinsonism. The patient's progressive Parkinsonian tremor, in addition to restricted vascular access, necessitated switching treatment for GD from intravenously infused enzyme repl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report here the results 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 24 months' treatment with oral miglustat\n <span style=\"font-size: 0.8em; f... | [
"mild-to-moderate Gaucher's disease (GD)",
"Parkinsonism",
"type I GD"
] | null | [
"progressive Parkinsonian tremor",
"restricted vascular access",
"concurrent movement disorders"
] | [
"24 months' treatment with oral miglustat",
"switching treatment for GD from intravenously infused enzyme replacement therapy (ERT) that had been administered for the previous 7 years",
"miglustat treatment",
"therapeutic alternative to ERT",
"Oral miglustat"
] | null | [
"control of haematological parameters and markers of GD activity improved or maintained"
] | [
"no notable adverse effects",
"unsuitable for ERT"
] |
gaucher:16967369 | Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding. | [
"Gaucher disease, a rare lysosomal storage disease caused by deficiency of glucocerebrosidase, may present with gastrointestinal bleeding. We report about an 11-month-old boy suffering from acute neuronopathic Gaucher disease who died after massive gastrointestinal bleeding. A gastric ulcer was found as the sole bl... | [
"<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",
"rare lysosomal storage disease",
"acute neuronopathic Gaucher disease"
] | null | [
"gastrointestinal bleeding",
"died",
"massive gastrointestinal bleeding",
"gastric ulcer",
"gastrointestinal bleedings"
] | null | null | [
"deficiency of glucocerebrosidase"
] | null |
gaucher:16923570 | Gaucher disease and multiple myeloma. | [
"Gaucher disease (GD) is the most frequent lysosomal storage disease and corresponds to an inherited deficiency of glucocerebrosidase. Due to excessive accumulation of glucocerebroside in bone marrow, both cytopenia and bone lesions may occur. The incidence of malignant disorders has been evoked in non-neuronopathi... | [
"<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",
"malignant disorders",
"non-neuronopathic type I GD",
"association between GD and multiple myeloma (MM)",
"GD and MM association"
] | [
"inherited"
] | [
"bone lesions"
] | null | null | [
"deficiency of glucocerebrosidase",
"cytopenia"
] | null |
gaucher:16921309 | Laparoscopic splenic autotransplantation. | [
"Since 1990, we have performed splenic autotransplantation in more than 100 patients to treat splenic trauma, portal hypertension, myeloid metaplasia due to myelofibrosis, chronic lymphocytic leukemia, and Gaucher disease. The aim of this present study was to present splenic autotransplantation performed by laparos... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Since 1990, we have performed \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n splenic autotransplantation\n <span style=\"font-size: 0.8em; font-weight: b... | [
"portal hypertension",
"myeloid metaplasia due to myelofibrosis",
"chronic lymphocytic leukemia",
"Gaucher disease"
] | null | [
"splenic trauma",
"severe splenic pain",
"ischemia",
"multiple focal thromboses of splenic arterial branches",
"minor bleeding",
"pain disappeared"
] | [
"splenic autotransplantation",
"splenic autotransplantation",
"laparoscopic means",
"laparoscopic splenectomy",
"splenic tissue autotransplantation",
"spleen was removed and cut in 20 fragments that were sutured to the greater omentum",
"splenic autotransplants",
"splenic autotransplants",
"laparosc... | null | null | [
"no technical difficulties or complications"
] |
gaucher:16859193 | [Neurophysiolgical analysis in an 18-month-old girl with Gaucher's disease type 2]. | [
"Gaucher's disease is caused by a lack of glucocerebrosidase, and in type 2 various neurological symptoms can occur;however, the detailed pathogenesis of the condition remains undetermined. Here we performed neurophysiological examinations in an 18-month-old girl with Gaucher's disease type 2 to specify the brainst... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"type 2",
"Gaucher's disease type 2",
"Gaucher's disease type 2",
"Gaucher's disease"
] | null | [
"neurological symptoms",
"Developmental delay",
"strabismus",
"loss of head control",
"failure to thrive",
"irregular respiration",
"limited ocular movements",
"poor facial expression",
"bulbar palsy",
"disturbances in the nuclei of oculomotor, trochlear, abducent, facial and ambiguous nerves",
... | null | null | [
"lack of glucocerebrosidase",
"reduced glucocerebrosidase activity"
] | [
"magnetic resonance imaging (MRI) failed to visualize any structural changes in the brain including the brainstem",
"lack of modification of respiratory patterns by sleep stage",
"MRI"
] |
gaucher:16839535 | Severe systemic immune response syndrome, low plasma paraoxonase activity, and a new albumin species in a traumatized patient with Gaucher's disease. | [
"Gaucher's disease (GD) is an inborn error, autosomal recessive lysosomal lipid storage disorder characterized by the lack of the enzyme glucocerebrosidase. We observed some abnormalities in the plasma of a traumatized patient with GD.",
"We report of a traumatized patient with GD that developed a severe systemic... | [
"<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 lipid storage disorder",
"GD",
"GD",
"GD",
"GD",
"Gaucher"
] | [
"inborn error",
"autosomal recessive",
"potentially novel post-translational modification (PTM) of albumin was noticed in the"
] | [
"traumatized",
"severe systemic immune response",
"accentuated systemic immune response",
"traumatized"
] | [
"traumatized",
"extended hospital stay",
"enzyme replacement therapy (ERT) with Cerezyme",
"ERT"
] | null | [
"lack of the enzyme glucocerebrosidase",
"some abnormalities in the plasma",
"Plasma paraoxonase (PON) activity was assayed",
"to be extremely low",
"decreased plasma PON activity measured",
"modified albumin species"
] | null |
gaucher:16835986 | Enzyme replacement therapy with imiglucerase in a Taiwanese child with type 1 Gaucher disease. | [
"The treatment of type 1 Gaucher disease has dramatically improved with the development of enzyme replacement therapy (ERT). To date, however, imiglucerase treatment of this disease in Taiwanese pediatric patients has not been reported. A Taiwanese child with type 1 Gaucher disease was regularly treated with imiglu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The treatment 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 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"type 1 Gaucher disease",
"type 1 Gaucher disease",
"type 1 Gaucher disease"
] | null | [
"significant improvement in skeletal deformity",
"dramatic decrease in liver size",
"markedly increased linear growth",
"alleviation of bone pain and bone crises",
"improved bone mineral density"
] | [
"enzyme replacement therapy (ERT)",
"imiglucerase treatment",
"treated with imiglucerase",
"splenectomy",
"intravenous imiglucerase 60 U/kg every 2 weeks for 78 months",
"ERT",
"ERT with imiglucerase"
] | [
"Taiwanese",
"Taiwanese"
] | [
"correction of anemia"
] | [
"No signs of pubertal development were documented",
"no serious adverse effects"
] |
gaucher:16830259 | Iliopsoas haematoma in Gaucher disease. | [
"Extrapelvis or retroperitoneal haemorrhage has long been appreciated as having many causes and considerable variability in subsequent morbidity; however, to date only two cases have been reported in patients with Gaucher disease, the most common lysosomal storage disorder. It had been our assumption that these cas... | [
"<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 Extrapelvis or retroperitoneal haemorrhage\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Gaucher disease",
"lysosomal storage disorder",
"Gaucher disease"
] | null | [
"Extrapelvis or retroperitoneal haemorrhage",
"bleeding",
"muscle strain after activity",
"massive hepatosplenomegaly",
"bone pain with skeletal involvement",
"exquisite groin pain",
"extrapelvis haemorrhage"
] | null | null | [
"anaemia",
"thrombocytopenia"
] | [
"not been treated with enzyme (or other disease-specific) therapy"
] |
gaucher:16680390 | Rheumatologic aspects of lysosomal storage diseases. | [
"Lysosomal storage diseases are rare metabolic disorders, some of which can now be treated using enzyme replacement therapies. Because the time point of treatment initiation significantly influences the outcome in Gaucher disease, Fabry disease, and mucopolysaccharidosis type I, early diagnosis is of utmost importa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Lysosomal storage diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Lysosomal storage diseases",
"rare metabolic disorders",
"Gaucher disease",
"Fabry disease",
"mucopolysaccharidosis type I",
"lysosomal storage disease"
] | null | [
"musculoskeletal symptoms",
"symptom constellations"
] | [
"enzyme replacement therapies"
] | null | null | null |
gaucher:16644398 | [Gaucher disease and chitotriosidase]. | [
"The course of chitotriosidase levels was studied in 4 patients with type 1 Gaucher disease during treatment or during modifications to dosage or the frequency of administration. It proved to be a good marker of disease progression, before and during treatment. In the 4 patients treated by enzyme therapy, an increa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The course 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 chitotriosidase levels\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"type 1 Gaucher disease",
"pregnancy"
] | null | [
"clinical complications"
] | [
"enzyme therapy",
"discontinuation of treatment",
"rapid resumption of treatment",
"dosage change"
] | null | [
"chitotriosidase levels",
"increase in chitotriosidase levels",
"its rapid and persistent decrease",
"activity of chitotriosidase"
] | [
"insufficient dosage",
"poor compliance with treatment"
] |
gaucher:16485335 | Type 2 Gaucher disease: 15 new cases and review of the literature. | [
"To provide a description of type 2 Gaucher disease. To attempt to define type 2 Gaucher disease within the spectrum of early-onset neuronopathic Gaucher disease.",
"Type 2 Gaucher disease is a rare disorder due to glucocerebrosidase deficiency that comprises a rapidly progressing neurological degeneration associ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To provide a description 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 2 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"type 2 Gaucher disease",
"type 2 Gaucher disease",
"early-onset neuronopathic Gaucher disease",
"Type 2 Gaucher disease",
"perinatal-lethal Gaucher disease",
"type 2 Gaucher",
"acute Gaucher disease",
"early-onset neuronopathic Gaucher disease",
"acute type",
"perinatal-lethal form",
"type 2 Ga... | [
"rare disorder"
] | [
"rapidly progressing neurological degeneration",
"visceral signs",
"precocious, severe, and rapidly progressive brainstem degeneration in the foreground",
"hyperextension of the neck",
"swallowing impairment",
"strabismus",
"Provoked asphyxic episodes",
"prolonged spontaneous apneas",
"neurological ... | null | null | [
"glucocerebrosidase deficiency",
"thrombocytopenia",
"anemia"
] | null |
gaucher:16329099 | Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays. | [
"The correct identification of disease-causing mutations from the background of harmless nucleotide polymorphisms/substitutions has become a critical issue in the investigation of human genetic diseases. Here, we describe two novel disease-causing splicing mutations in the glucocerebrosidase gene, g.4252C>G and g.4... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The correct identification of disease-causing mutations from the background of harmless nucleotide polymorphisms/substitutions has become a critical issue in the investigation of human \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.4... | [
"Gaucher disease"
] | [
"genetic diseases",
"novel disease-causing splicing mutations in the glucocerebrosidase gene, g.4252C>G and g.4426A>G",
"g.4252C>G substitution occurred in intron 5 and was located 12 nucleotides upstream of exon 6 acceptor site whilst the g.4426A>G mutation was located within this exon, 12 nucleotides upstream... | null | null | null | null | null |
gaucher:16253723 | A comprehensive assessment of renal function in patients with Gaucher disease. | [
"Gaucher disease (GD) is caused by deficiency of acid beta-glucocerebrosidase and is the most common lysosomal storage disease. Patients may have massive hepatosplenomegaly, severe bone disease, and, occasionally, pulmonary or neurological involvement. Although other storage diseases, such as Fabry disease, frequen... | [
"<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",
"storage diseases",
"Fabry disease",
"GD",
"GD",
"GD",
"diabetes mellitus",
"multiple myeloma",
"multiorgan",
"GD"
] | null | [
"massive hepatosplenomegaly",
"severe bone disease",
"pulmonary or neurological involvement",
"kidneys",
"renal abnormalities"
] | null | null | [
"deficiency of acid beta-glucocerebrosidase",
"urine electrolytes, total protein, and tubular proteinuria",
"GFR was",
"greater GFR",
"Significant proteinuria",
"Glomerular hyperfiltration"
] | [
"decreased renal function",
"No evidence of renal tubular abnormalities",
"kidney sonographic appearance and size were normal",
"not find renal abnormalities",
"subsequent decline in renal function"
] |
gaucher:16213406 | Type 3 Gaucher's disease in a three-year-old child: saccadic eye movements analysis. | [
"Gaucher's disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its three existing forms, the most frequent non-neurological form (type 1: GD1) is treatable with approp... | [
"<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)",
"non-neurological form",
"type 1: GD1)",
"type 3 form (GD3)",
"GD1"
] | [
"autosomal-recessive disorder"
] | [
"progression of the neurological involvement",
"slowed down"
] | [
"appropriate amounts of exogenous enzyme-replacement therapy (ERT)",
"much higher doses of ERT"
] | null | null | [
"inability of ERT to cross the blood-brain barrier"
] |
gaucher:16189163 | Pseudo-Gaucher cells in mycobacterial infection: a report of two cases. | [
"This report describes two cases of mycobacterial infection with pseudo-Gaucher cells. Both patients had no clinical evidence of inherited Gaucher disease. The first case was a patient with AIDS and Mycobacterium avium intracellulare involving the lung, spleen, and bone marrow. The bone marrow aspirates showed many... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report describes 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 mycobacterial infection\n <span style=\"font-size: 0.8em; font-weight: ... | [
"mycobacterial infection",
"AIDS",
"alcoholic",
"Mycobacteriumkanasassi infection"
] | null | null | null | null | null | [
"no clinical evidence of inherited Gaucher disease"
] |
gaucher:16038664 | Uveitis in Gaucher disease. | [
"Chronic uveitis has been previously reported in a patient with Gaucher's disease and improved with enzyme replacement therapy. This report describes the course of uveitis in two other patients with type I Gaucher's disease.",
"Observational case reports.",
"Review of all patients in a large referral clinic for... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Chronic uveitis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Chronic uveitis",
"Gaucher's disease",
"uveitis",
"type I Gaucher's disease",
"Gaucher's disease",
"uveitis",
"uveitis",
"mild Gaucher's disease"
] | null | [
"uveitis well controlled for 10 years"
] | [
"enzyme replacement therapy"
] | null | null | [
"solely by local corticosteroids",
"progression of uveitis",
"despite enzyme replacement therapy"
] |
gaucher:15967693 | Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease. | [
"Gaucher disease, the most common lysosomal storage disorder, encompasses a wide spectrum of clinical symptoms. The perinatal lethal form is very rare and is considered a distinct form of classic type 2 Gaucher disease. Prominent features of the severe perinatal form are hepatosplenomegaly variable, associated 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 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disorder",
"perinatal lethal form",
"classic type 2 Gaucher disease",
"severe perinatal form",
"type 2 Gaucher disease",
"classic type 2",
"type 2",
"Gaucher disease",
"type 2"
] | [
"compound heterozygosity for the complex allele [L444P;E326K] and mutation P182L",
"Mutations E326K and L444P were on the same chromosome",
"double mutant allele had lower activity, 8.5% of wild type",
"P182L mutant enzyme showed no glucocerebrosidase activity",
"the complex allele [L444P;E326K]",
"homozy... | [
"hepatosplenomegaly variable",
"hydrops fetalis",
"ichthyosis",
"generalized ichthyosis",
"died",
"perinatal lethal presentation of the disease"
] | null | [
"Spanish",
"Spanish"
] | [
"activity of individual E326K and L444P mutant enzymes, 42.7% and 14.1%"
] | null |
gaucher:15952302 | Secondary G-CSF mobilized blood stem cell transplantation without preconditioning in a patient with Gaucher disease: Report of a new approach which resulted in complete reversal of severe skeletal involvement. | [
"Gaucher disease has been treated by allogeneic bone marrow transplantation (BMT), however, severe bone involvement that is probably the most disabling aspect of this disease is difficult to reverse. Other problem of BMT is the use of intensive preconditioning that adversely affects growth and development of the pa... | [
"<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 I Gaucher disease",
"prophylaxis of graft-versushost disease (GVHD)"
] | null | [
"severe bone involvement",
"late graft failure",
"severe bone involvement",
"clinical symptoms",
"severe bone involvement",
"complete reversal of severe bone involvement"
] | [
"allogeneic bone marrow transplantation (BMT)",
"BMT",
"intensive preconditioning",
"allogeneic BMT from HLA-matched sibling donor",
"BMT",
"treated by allogeneic peripheral blood stem cell (PBSC) transplantation without preconditioning",
"Recombinant human granulocyte-colony stimulating factor (rhG-CSF... | null | [
"increased glucocerebrosidase activity"
] | null |
gaucher:15943874 | Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation. | [
"Gaucher disease type I, the non-neuropathic type, usually presents in adulthood with hepatosplenomegaly. We report here an adult with type I Gaucher disease presented with unusual and severe clinical manifestations.",
"Hepatosplenomegaly, bone crisis and fractures occurred at early childhood, and splenectomy was... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher disease type I",
"non-neuropathic type",
"type I Gaucher disease",
"Gaucher disease",
"type I Gaucher disease"
] | [
"V375L/L444P mutations in the beta-glucocerebrosidase gene"
] | [
"hepatosplenomegaly",
"unusual and severe clinical manifestations",
"Hepatosplenomegaly",
"bone crisis",
"fractures",
"Exophthalmos with increase in retrobulbar space",
"pulmonary arteriovenous malformation",
"dyspnea",
"hypoxemia",
"eye and lung diseases",
"exophthalmos",
"pulmonary arteriove... | [
"splenectomy",
"Cerezyme infusion"
] | null | null | null |
gaucher:15902565 | Clinical response to sildenafil in pulmonary hypertension associated with Gaucher disease. | [
"There are few reports of pulmonary hypertension in Gaucher disease. We report a patient who showed significant clinical improvement after treatment with sildenafil."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are few reports 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 pulmonary hypertension\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Gaucher disease"
] | null | [
"pulmonary hypertension",
"significant clinical improvement"
] | [
"treatment with sildenafil"
] | null | null | null |
gaucher:15881721 | [Gaucher's disease. Substitutive enzymatic treatment in one case and a review of the literature]. | [
"Gaucher's disease, rare, hereditary and potentially mortal affection is characterized by the reduced concentration of the glucocerebroside lipid within the macrophage lysosomes. We report the case of a young 2 years old patient treated by transfusion since he was 9 months because of chronic anemia. According the c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher'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",
"polyvisceral disease"
] | [
"hereditary"
] | [
"bad",
"important delayed stanturoponderal growth",
"cutaneomucous paller",
"enormous splenomegaly",
"spontaneous evolution ofter mortal"
] | [
"treated by transfusion",
"substitutive enzymatic (inifucerase)",
"recombining glucocerebrosidase (imiglucerase)"
] | null | [
"chronic anemia",
"anemia",
"major thrombopenia",
"enzymatic deficiency"
] | null |
gaucher:15879733 | Menetrier's disease presenting as an acute protein-losing gastroenteropathy in a 27-year-old man with Gaucher disease. | [
"To describe a unique case of a young man with Gaucher disease who was diagnosed with Menetrier's disease.",
"After an acute episode of severe gastritis, the patient developed hypoalbuminemia and protein-losing gastroenteropathy, and became unwell.",
"Endoscopy revealed an abnormal stomach, with rigid, thickene... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe a unique 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 young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Gaucher disease",
"Menetrier's disease",
"acute episode of severe gastritis",
"Menetrier's disease",
"infection",
"adult Menetrier's disease"
] | null | [
"unwell",
"abnormal stomach, with rigid, thickened folds covered with viscous greyish exudates",
"foveolar hyperplasia",
"improved spontaneously"
] | [
"Enzyme replacement therapy for Gaucher disease",
"enzyme treatment"
] | null | [
"hypoalbuminemia",
"protein-losing gastroenteropathy"
] | [
"Tissue cultures for Helicobacter pylori were negative"
] |
gaucher:15861202 | Neonatal Gaucher disease presenting as persistent thrombocytopenia. | [
"Mutations in the beta-glucocerebrosidase gene cause Gaucher disease with the type 1 variant generally presenting later in life with mild disease and type 2 in infancy with severe neuronopathic symptoms. We describe a neonate homozygous for the D409 H mutation with thrombocytopenia, splenomegaly and cholestasis at ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mutations in the beta-glucocerebrosidase gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Gaucher disease",
"type 1 variant",
"type 2"
] | [
"Mutations in the beta-glucocerebrosidase gene",
"homozygous for the D409 H mutation"
] | [
"mild disease",
"severe neuronopathic symptoms",
"cholestasis"
] | null | null | [
"thrombocytopenia",
"splenomegaly"
] | null |
gaucher:15856305 | A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. | [
"Only two Gaucher disease (GD) patients bearing mutations in the prosaposin gene (PSAP), and not in the glucocerebrosidase gene (GBA), have been reported. In both cases, one mutant allele remained unidentified. We report here the identification of the second mutation in one of these patients, being the first comple... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Only two \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-... | [
"Gaucher disease (GD)",
"GD"
] | [
"mutations in the prosaposin gene (PSAP)",
"mutant allele remained unidentified",
"second mutation",
"mutation, p.Q430X,",
"in the saposin D domain",
"null allele by nonsense mediated mRNA decay"
] | null | null | null | [
"SAP-C-deficient"
] | [
"not in the glucocerebrosidase gene (GBA)"
] |
gaucher:15787800 | Bilateral lung transplant in Gauchers type-1 disease. | [
"We report a case of a patient who received a bilateral lung transplant for end-stage lung disease secondary to Gauchers type-1 disease with no evidence of recurrence of the disease in the transplanted lung."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of a patient who \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n received a bilateral lung transplant\n <span style=\"font-size: 0.8em; f... | [
"end-stage lung disease",
"Gauchers type-1 disease"
] | null | null | [
"received a bilateral lung transplant"
] | null | null | [
"no evidence of recurrence of the disease in the transplanted lung"
] |
gaucher:15767896 | [MALT-type B-cell lymphoma masquerading as scleritis or posterior uveitis]. | [
"Diagnostic and therapeutic management of masquerade syndromes associated with MALT-type lymphoma.",
"We report the cases of three patients referred for acute or chronic severe loss of visual acuity. All of them suffered from uveitis or scleritis resistant to corticoid treatment. Each one had posterior uveitis as... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Diagnostic and therapeutic management 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 masquerade syndromes associated with MALT-type lymphoma\n <span s... | [
"anterior scleritis associated with uveal effusion syndrome",
"systemic malignancies",
"mucosa-associated lymphoid tissue (MALT) ocular lymphoma",
"scleritis",
"chronic"
] | null | [
"masquerade syndromes associated with MALT-type lymphoma",
"acute or chronic severe loss of visual acuity",
"uveitis or scleritis",
"posterior uveitis associated with retinochoroidal infiltration",
"bilateral pan-uveitis associated with serous retinal detachment",
"posterior scleral thickening",
"Lesion... | [
"chemotherapy associated with radiotherapy"
] | null | null | [
"resistant to corticoid treatment",
"Search for an infectious, immune or malignant disease was negative",
"corticoid-resistant posterior uveitis"
] |
gaucher:15734007 | Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up. | [
"To report a case of type I Gaucher's disease with rare presentation of fundus abnormalities in long-term observation.",
"Observational case report.",
"This 53-year-old Taiwanese woman suffered from type I Gaucher's disease for 12 years, with initial presentation of hepatoslpenomegaly in 1992.",
"At that time... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report 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 type I Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"type I Gaucher's disease",
"type I Gaucher's disease",
"Gaucher's disease"
] | null | [
"rare presentation of fundus abnormalities",
"hepatoslpenomegaly",
"poor vision with unusual macular change",
"peripheral retinal vessel leakage",
"visual acuity was 10/200 in both eyes",
"macular and peripheral retinal degenerative change",
"Fundus changes",
"retinal involvement"
] | [
"treated with imiglucerase injection during the last 4 years"
] | [
"Taiwanese"
] | null | null |
gaucher:15727093 | [Gaucher disease--one of the possible causes of splenomegaly--case report]. | [
"The aim of this article is to present a case report of Gaucher disease which was diagnosed in patient with hepatosplenomegaly. A 43 years old man has complained of weakness, stomach pain and yellowish skin color for several years. The severity of symptoms has increased during the last 2 years. Laboratory data reve... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The aim of this article is to present a case report of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; f... | [
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | null | [
"hepatosplenomegaly",
"weakness",
"stomach pain",
"yellowish skin color",
"hepatosplenomegaly",
"size of the spleen to 20 x 12 cm"
] | null | null | [
"thrombocytopenia (platelet count 108 G/l)",
"slightly elevated bilirubin level (1.68 mg/dl)",
"Chitotriosidase level in serum was pronouncedly increased (11,540 nmol/mg protein/hr)",
"normal level is under 150 nmol/mg protein/hr",
"Glucocerebrosidase activity in leucocytes was within the limit",
"the enz... | null |
gaucher:15702402 | Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. | [
"Type B Niemann-Pick disease (NPD) is a nonneuronopathic lysosomal storage disorder which is characterized by accumulation of sphingomyelin-laden macrophages. The availability of plasma markers for storage cells may be of great value in facilitating therapeutic decisions. Given the similarity of the storage cells i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type B Niemann-Pick disease (NPD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Type B Niemann-Pick disease (NPD)",
"nonneuronopathic lysosomal storage disorder",
"type B course of NPD",
"type B NPD",
"Gaucher disease"
] | null | [
"marked hepatosplenomegaly",
"pulmonary involvement"
] | [
"enzyme supplementation therapy"
] | null | [
"Gaucher plasma markers (chitotriosidase and CCL18)",
"markedly increased levels of chitotriosidase and CCL18",
"plasma chitotriosidase and CCL18 were clearly elevated above normal values",
"immediately after birth",
"rapidly increased further",
"plasma chitotriosidase and CCL18"
] | null |
gaucher:15669686 | Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype. | [
"Gaucher disease (GD) is a lysosomal storage disorder with a broad, overlapping clinical spectrum. The presented two case reports highlight the clinical evaluation required in neuronopathic GD to assist with medical management and genetic counselling."
] | [
"<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",
"neuronopathic GD"
] | null | null | [
"genetic counselling"
] | null | null | null |
gaucher:15635804 | [Uncommon combination of multiple myeloma in three patients]. | [
"The authors describe uncommon combinations of multiple myeloma in three men aged 83, 63 and 55 years. In patient no. 1 both diseases--pernicious anaemia and multiple myeloma IgG-kappa were detected simultaneously. In patient no. 2 Crohn's disease preceded multiple myeloma IgA-lambda by more than 30 years. In patie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors 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 uncommon combinations of multiple myeloma\n <span style=\"font-size: 0.8em; font-weig... | [
"uncommon combinations of multiple myeloma",
"both diseases--pernicious anaemia",
"multiple myeloma IgG-kappa",
"Crohn's disease",
"multiple myeloma IgA-lambda",
"Gaucher's disease",
"multiple myeloma",
"development of the myeloma"
] | null | [
"had an adverse effect on the general course of the disease",
"fatal"
] | null | null | [
"paraproteinaemia IgA-lambda and IgG-kappa by more than 10 years"
] | [
"despite treatment"
] |
gaucher:15584542 | [Diagnostic image (215). A woman with abdominal pain and hepatosplenomegaly]. | [
"A 30-year-old woman presented with abdominal pain, cholelithiasis and hepatosplenomegaly, due to Gaucher's disease."
] | [
"<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 30-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease"
] | null | [
"abdominal pain",
"cholelithiasis",
"hepatosplenomegaly"
] | null | null | null | null |
gaucher:15551278 | Type I Gaucher disease with severe skeletal destruction, extraosseous extension, and monoclonal gammopathy. | [
"Extraosseous extensions of Gaucher-cell deposits simulate malignant diseases. We describe a 65-year-old male with type-I Gaucher disease, confirmed by low leukocyte glucocerebrosidase activity, high plasma chitotriosidase, and N370/L444P gene-mutations, who had severe skeletal involvement, IgG-kappa monoclonal gam... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Extraosseous extensions of Gaucher-cell deposits\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"malignant diseases",
"type-I Gaucher disease"
] | [
"N370/L444P gene-mutations"
] | [
"severe skeletal involvement",
"soft-tissue mass within the left iliac muscle"
] | null | null | [
"low leukocyte glucocerebrosidase activity",
"high plasma chitotriosidase",
"IgG-kappa monoclonal gammopathy"
] | [
"malignant diseases were excluded"
] |
gaucher:15474392 | Familial calcium pyrophosphate dihydrate deposition disease. A Tunisian kindred. | [
"Familial calcium pyrophosphate dihydrate deposition disease (CPDD) is uncommon, with about 50 affected families identified to date in the world. Genetic studies in familial CPDD are focusing on the ANKH gene. We report a new Tunisian kindred with CPDD.",
"The development of CPDD in a patient who was only 35 year... | [
"<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 Familial calcium pyrophosphate dihydrate deposition disease (CPDD)\n <span style=\"font-size: 0.8em; font-... | [
"Familial calcium pyrophosphate dihydrate deposition disease (CPDD)",
"familial CPDD",
"CPDD",
"pseudogout",
"pseudoosteoarthritis",
"asymptomatic disease",
"pseudorheumatoid arthritis",
"Gaucher type 1 familial CPDD"
] | [
"ANKH gene",
"Inheritance was autosomal dominant with low penetrance",
"Inherited autosomal dominant CPDD",
"low penetrance",
"ANKH gene mutations"
] | null | null | [
"Tunisian",
"Tunisian"
] | null | [
"No associations with specific HLA antigens were found"
] |
gaucher:15453048 | [Gaucher's disease uncovered late]. | [
"Gaucher's disease is an uncommon inborn recessive autosomal disease, due to a deficient activity of the lysosomal enzyme beta glucocerebrosidase. This disease is usually diagnosed in the first or second decade of life with the arising of bone pains, splenomegaly and hemorragic manifestations due to thrombocytopeni... | [
"<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"
] | [
"uncommon inborn recessive autosomal disease"
] | [
"bone pains",
"splenomegaly",
"hemorragic manifestations"
] | [
"splenectomy"
] | null | [
"deficient activity of the lysosomal enzyme beta glucocerebrosidase",
"thrombocytopenia",
"pancytopenia"
] | [
"enlarged spleen is not evident",
"mis-identified as having Gaucher's disease"
] |
gaucher:15389993 | Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. | [
"Deficiency of enzyme acid beta-galactosidase causes GM1 gangliosidosis. Patients with adult GM1 gangliosidosis typically present with generalized dystonia. We describe clinical, bone marrow, and radiological features of adult GM1 gangliosidosis to help improve its recognition. We report 3 Indian patients and revie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Deficiency of enzyme acid beta-galactosidase\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"GM1 gangliosidosis",
"adult GM1 gangliosidosis",
"adult GM1 gangliosidosis",
"Dystonia",
"Adult (Type 3) GM1 Gangliosidosis"
] | null | [
"generalized dystonia",
"abnormal gait",
"worsening of speech",
"Facial dystonia",
"\"facial grimacing\"",
"Dysarthria/anarthria",
"bilateral symmetrical putamenal hyperintensities on T2-weighted and proton density images",
"generalized dystonia",
"prominent facial dystonia",
"severe speech distur... | null | [
"Indian",
"Japanese"
] | [
"Deficiency of enzyme acid beta-galactosidase",
"deficiency of beta-galactosidase",
"Deficiency of beta-galactosidase in fibroblasts"
] | [
"normal at birth",
"normal early motor and mental development",
"eye movements are normal",
"normal eye movements"
] |
gaucher:15362365 | Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. | [
"Although the existence of anti-inflammatory alternatively activated macrophages (aamphi) has been accepted widely based on in vitro studies, their in vivo location, phenotype, and function still are debated. Gaucher disease (GD) is caused by a genetic deficiency in the lysosomal enzyme glucocerebrosidase and is ch... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although the existence 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 anti-inflammatory alternatively activated macrophages (aamphi)\n <span style=\"f... | [
"Gaucher disease (GD)"
] | [
"genetic deficiency in the lysosomal enzyme glucocerebrosidase",
"expressing acid phosphatase, CD68, CD14, and HLA class II",
"aamphi markers CD163, CCL18",
"CD36 and signal receptor protein alpha"
] | null | null | null | [
"interleukin-1 receptor antagonist"
] | [
"not CD11b, CD40, or dendritic cell markers",
"did not express proinflammatory cytokines such as tumor necrosis factor alpha and monocyte chemoattractant protein 1"
] |
gaucher:15329082 | Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L). | [
"Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, is characterized by genotypic and phenotypic heterogeneity. We recently characterized the glucocerebrosidase alleles of a patient with an unusual clinical presentation of type 3 Gaucher disease.",
"Initial clinical manifestatio... | [
"<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 3 Gaucher disease",
"adolescent-onset form of progressive myoclonus epilepsy",
"Gaucher disease",
"progressive disorder"
] | [
"inherited deficiency of the lysosomal enzyme glucocerebrosidase",
"glucocerebrosidase alleles"
] | [
"visual seizures",
"progressive myoclonus",
"generalized seizures",
"fairly moderate hepatomegaly",
"died",
"clinical and neurophysiological findings",
"initial visual seizures",
"myoclonus",
"progressive myoclonus epilepsy"
] | [
"genetic counseling"
] | null | null | [
"absence of hematologic abnormalities",
"absence of the classic neurologic and systemic signs of the disease"
] |
gaucher:15292921 | Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotype. | [
"Acute neuronopathic Gaucher's disease is classically considered to be a disease of late infancy, but also includes a spectrum of variant phenotypes such as perinatal lethal hydrops, or the collodian baby phenotype in the newborn period. These extreme phenotypes are frequently associated with recombinant alleles, n... | [
"<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 Acute neuronopathic Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Acute neuronopathic Gaucher's disease",
"perinatal lethal hydrops",
"Gaucher's disease"
] | [
"recombinant alleles",
"nonsense mutations",
"rare missense mutations",
"homozygosity for the missense mutation C16S, which is located in exon 3 and results in the loss of a cysteine residue"
] | [
"collodian baby phenotype in the newborn period"
] | null | null | [
"virtually zero enzyme activity"
] | null |
gaucher:15214004 | Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. | [
"A subset of patients with type 2 Gaucher disease is characterized by intrauterine onset of rapidly progressive neuropathic disease, arthrogryposis, hydrops fetalis and in some cases restrictive dermopathy. beta-Glucocerebrosidase (beta-glucosidase) activity is usually low or undetectable. In most cases death ensue... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A subset of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 2 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"type 2 Gaucher disease",
"hydrops fetalis",
"type 2 Gaucher disease"
] | [
"novel heterozygous insertion c.1515_1516insAGTGAGGGCAAT",
"transheterozygous combination of a mutation, previously described in type 1 Gaucher disease",
", together with a newly identified insertion"
] | [
"intrauterine onset of rapidly progressive neuropathic disease",
"arthrogryposis",
"restrictive dermopathy",
"death",
"hydrops",
"arthrogryposis",
"severe respiratory distress",
"hepatosplenomegaly",
"liver failure",
"Death"
] | null | null | [
"beta-Glucocerebrosidase (beta-glucosidase) activity is",
"low or undetectable",
"beta-Glucocerebrosidase activity was 1% of the norm in fibroblasts"
] | null |
gaucher:15174536 | Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins. | [
"Identical female twins (age 11 years) with congenital ocular motor apraxia and generalized idiopathic epilepsy are reported. Their presenting symptoms were a long history of abnormal head and eye movements. One twin developed partial sensory seizures. The patients underwent 16-channel EEG, electro-oculographic rec... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Identical \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: 0.35e... | [
"generalized idiopathic epilepsy",
"idiopathic generalized epilepsy",
"Tay-Sachs disease",
"GM1 gangliosidosis",
"metacromatic leucodystrophy",
"Gaucher disease",
"Niemann-Pick disease (A and B)",
"Krabbe leucodystrophy"
] | [
"autosomal recessive inheritance",
"insertion and missense mutations of the aprataxin gene"
] | [
"congenital ocular motor apraxia",
"long history of abnormal head and eye movements",
"asymmetry between the right and left temporal lobes",
"early onset form of ataxia",
"ocular motor apraxia"
] | null | null | [
"hypoalbuminaemia"
] | [
"inability to elicit horizontal saccades without preceding head movement",
"saccades to the left were better than saccades to the right",
"MR scans for one twin showed normal findings",
"no specific abnormality",
"excluded Sandhoff disease",
"Albumin and immunoglobulin (IgA, IgG, and IgM) levels were norm... |
gaucher:15151139 | [A 32-year old male patient with pathological humeral fracture, splenomegaly and thrombocytopenia]. | [
"We describe the case of a 32-year old male patient who presented with a pathological fracture of his right humerus, splenomegaly and thrombocytopenia, the typical symptoms of Gaucher's disease, a lysosomal storage disease. Diagnosis was confirmed by bone marrow biopsy (detection of lipid engorged macrophages - Gau... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 32-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Gaucher's disease",
"lysosomal storage disease"
] | [
"two different mutations (764T/A, 1187G/A) in the gene encoding acid beta-Glucosidase",
"first mutation causes an amino-acid substitution (phenylalanine to tyrosine)",
"The second mutation causes a premature termination at amino-acid position 396"
] | [
"pathological fracture of his right humerus",
"splenomegaly",
"severe bone symptoms",
"decrease in spleen size",
"the bone lesions have almost disappeared"
] | [
"Enzyme replacement therapy",
"with 60 Units/kg body weight",
"dose was gradually tapered to 20 U/kg",
"two years of enzyme replacement therapy"
] | null | [
"thrombocytopenia",
"markedly diminished activity of acid, beta-Glucosidase",
"increase in platelet count",
"platelet count and spleen volume have normalized"
] | null |
gaucher:15109286 | [Skeletal manifestations of Gauchers disease. A report of two cases]. | [
"Gauchers disease is the most frequent hereditary lysosomal deposit storage disorder. It is characterized by a deficiency of the enzyme glucocerebrosidase that leads to an accumulation of substrate in the interior of the macrophage lysosomes. It is classified in three types, according to the presence of central ner... | [
"<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",
"lysosomal deposit storage disorder",
"type 2 and 3)",
"type 1)",
"multisystemic disease",
"Gauchers"
] | [
"hereditary"
] | [
"central nervous system involvement",
"hepatosplenomegaly",
"Skeletal involvement",
"skeletal manifestations"
] | null | null | [
"deficiency of the enzyme glucocerebrosidase",
"anemia",
"thrombocytopenia"
] | null |
gaucher:15094578 | Positive heterophile antibody test and massive splenomegaly in an adolescent with previously unsuspected Gaucher disease. | [
"Mild splenomegaly is common in patients with Epstein-Barr virus-associated infectious mononucleosis. Massive splenomegaly, however, is rare and requires further evaluation to exclude other causes. We report an adolescent girl with previously undiagnosed type 1 Gaucher disease who presented with massive splenomegal... | [
"<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 Mild splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Epstein-Barr virus-associated infectious mononucleosis",
"type 1 Gaucher disease"
] | null | [
"Mild splenomegaly",
"Massive splenomegaly",
"massive splenomegaly"
] | null | null | [
"positive heterophile antibody test for infectious mononucleosis"
] | null |
gaucher:15028849 | Twin pairs showing discordance of phenotype in adult Gaucher's disease. | [
"Non-neuronopathic (type 1) Gaucher's disease, a recessive disorder caused by glucocerebrosidase deficiency, shows marked variability in the severity and extent of clinical expression: many individuals who harbour two mutant alleles remain mildly affected or asymptomatic. Despite much effort, it is not possible acc... | [
"<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 Non-neuronopathic (type 1) Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Non-neuronopathic (type 1) Gaucher's disease",
"Gaucher disease",
"Gaucher",
"Gaucher disease"
] | [
"recessive disorder",
"two mutant alleles",
"non-heritable factors",
"Non-heritable factors",
"non-heritable factors"
] | null | [
"early treatment"
] | null | [
"glucocerebrosidase deficiency"
] | [
"mildly affected or asymptomatic",
"no evidence that significant lipid storage was ever initiated in the unaffected twin"
] |
gaucher:14994233 | Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family. | [
"We have identified six individuals over three generations within a Lebanese-Arab family affected with Gaucher disease. This family is unusual and informative because affected members are homozygous for a previously unidentified mutation, L371V. Clinical symptoms begin in early childhood and progress to moderately ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have identified six individuals over three generations within 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 Lebanese-Arab\n <span style=\"font-size... | [
"type 1 Gaucher disease"
] | [
"L371V",
"private mutation"
] | [
"Clinical symptoms",
"moderately severe involvement",
"bony involvement"
] | null | [
"Lebanese-Arab",
"Lebanese"
] | [
"significant anemia",
"thrombocytopenia"
] | [
"no mental deterioration"
] |
gaucher:14707511 | A model of neuronopathic Gaucher disease. | [
"Gaucher disease (GD) is a lysosomal disorder involving the accumulation of glucocerebroside in the liver, spleen, bones and brain. Some patients exhibit only systemic disease (type I), but others have additional neurological signs which may lead to rapid neurodegeneration in infancy (type II) or take a more interm... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal disorder",
"systemic disease",
"type I)",
"type II)",
"type III)",
"Types II and III",
"neuronopathic Gaucher disease (NGD)",
"Systemic disease",
"NGD",
"NGD",
"auditory neuropathy"
] | null | [
"additional neurological signs",
"rapid neurodegeneration",
"bulbar palsy",
"failure to thrive",
"neurological deterioration was relentless",
"death",
"complete absence of saccadic eye movements",
"progressive bilateral sixth nerve palsy",
"progressive deterioration of ABRs",
"neurological deterio... | [
"enzyme replacement therapy (ERT)",
"high-dose ERT (120 IU/kg every 2 weeks)",
"direct therapeutic intervention"
] | null | [
"incomplete systemic response to ERT"
] | [
"with normal peripheral hearing and otoacoustic emissions",
"in spite of high-dose ERT",
"preserved outer hair function"
] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.