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:14689286 | Cauda equina syndrome due to an intra-dural sacral cyst in type-1 Gaucher disease. | [
"The authors report a rare case of type-1 Gaucher disease with neurological and haematological involvement. The first onset was epilepsy, the diagnosis of GD1 was then confirmed and the patient experienced parkinsonism. The biological analysis revealed monoclonal gammapathy and factor-II mutation. The patient's con... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report a rare case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type-1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"type-1 Gaucher disease",
"GD1",
"parkinsonism",
"cauda equina syndrome",
"GD1"
] | [
"factor-II mutation"
] | [
"neurological and haematological involvement",
"epilepsy",
"intra-thecal sacral cyst",
"unusual causes of spinal cord and root compression"
] | null | null | [
"monoclonal gammapathy"
] | null |
gaucher:14577684 | Gaucher disease and brucella: just a mere coincidence? | [
"Gaucher disease type I and brucellosis are chronic diseases with similar symptoms and physical signs though the former is the most common lysosomal storage disease and the latter is an infectious disease. The similarities between these diseases make differential diagnosis difficult. Immunodeficiency is a feature o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher disease type I",
"brucellosis",
"chronic diseases",
"lysosomal storage disease",
"infectious disease",
"Gaucher disease type I",
"Gaucher disease type I",
"brucellosis"
] | null | [
"similar symptoms and physical signs",
"Immunodeficiency",
"infections"
] | [
"treatment of brucellosis"
] | null | null | null |
gaucher:12960723 | Amyloidosis and gastric bleeding in a patient with Gaucher disease. | [
"To describe the clinical course of a patient with Gaucher disease who subsequently developed amyloidosis.",
"We present a case of a splenectomized patient with Gaucher disease who developed portal hypertension secondary to an enlarged, cirrhotic-like liver, and recurrent life-threatening upper gastrointestinal b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe the clinical course of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-w... | [
"Gaucher disease",
"amyloidosis",
"Gaucher disease",
"amyloidosis",
"concurrence of Gaucher disease and amyloidosis",
"amyloidosis",
"Coexistence of apparently unrelated diseases with Gaucher disease",
"Gaucher disease"
] | null | [
"portal hypertension",
"enlarged, cirrhotic-like liver",
"recurrent life-threatening upper gastrointestinal bleeding",
"death",
"gastrointestinal symptoms were life-threatening"
] | [
"splenectomized",
"treated with enzyme replacement therapy for 5 years"
] | null | null | [
"Despite repeated diagnostic biopsies",
"no evidence of gammopathy or renal disease",
"regardless of concurrent enzyme replacement therapy"
] |
gaucher:12858659 | [Type I Gaucher's disease--a rare genetic metabolic disease]. | [
"Morbus Gaucher is a rare disease. It occurs once in 40,000 to 65,000 persons in the whole world. This is the most frequent lysosome disease in the clinics. This is the first lysosome disease used in perinatal diagnostics and the first one where enzyme therapy was implemented. Case of gaucher disease morbus type 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 Morbus Gaucher\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Morbus Gaucher",
"rare disease",
"lysosome disease",
"lysosome disease",
"gaucher disease morbus type I",
"type I of this disease",
"Gaucher disease"
] | [
"distribution of certain genes responsible for transfer of characteristics and processes",
"heterozygotes (healthy) and carriers of Gaucher gene",
"recessive homozygotes",
"carriers of Gaucher gene"
] | null | [
"enzyme therapy",
"enzyme. Aglucerosis obtained from human placenta"
] | [
"Bosnia and Herzegovina"
] | null | [
"of antibodies",
"therapy is not"
] |
gaucher:12847165 | Gaucher's disease with Parkinson's disease: clinical and pathological aspects. | [
"The association between type 1 Gaucher disease and PD has been reported in the literature. The clinical picture is characterized by the predominance of bilateral akinetic-rigid signs and poor response to levodopa therapy. The authors describe four patients (two siblings) with type 1 Gaucher disease presenting with... | [
"<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 association between type 1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"association between type 1 Gaucher disease",
"PD",
"type 1 Gaucher disease"
] | null | [
"predominance of bilateral akinetic-rigid signs",
"signs of typical PD",
"asymmetric onset of rigidity",
"resting tremor",
"bradykinesia"
] | null | null | null | [
"poor response to levodopa therapy",
"favorable response to Parkinson therapies"
] |
gaucher:12812317 | Marked clinical and histologic improvement in a patient with type-1 Gaucher's disease following long-term glucocerebroside substitution. A case report and review of current diagnosis and management. | [
"Type-1 Gaucher's disease represents the most common lysosomal storage disorder. With the introduction of enzyme replacement therapy, many of the clinical manifestations can be controlled. The functional deficiency of the lysosomal beta-glucocerebrosidase leads to deposition of glycosylceramide in the liver, spleen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type-1 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Type-1 Gaucher's disease",
"lysosomal storage disorder",
"florid type-1 Gaucher's disease"
] | null | [
"marked clinical improvement"
] | [
"enzyme replacement therapy",
"long-term enzyme replacement therapy",
"cholecystectomy",
"initiation of enzyme replacement therapy"
] | null | [
"functional deficiency of the lysosomal beta-glucocerebrosidase"
] | null |
gaucher:12803123 | Type I Gaucher's disease with homozygous R463C mutation without neurological involvement. | [
"Gaucher's disease is an inherited glycolipid storage disorder, caused by a deficiency of the catabolic enzyme glucocerebrosidase. Frequently, N370S and L444P of mutations are observed. R463C (i.e., 1504C-->T) mutation may predict neurological involvement in Gaucher's disease. We report a 36-year-old Turkish man wi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher's disease",
"type I Gaucher's disease"
] | [
"inherited glycolipid storage disorder",
"N370S and L444P of mutations",
"R463C (i.e., 1504C-->T) mutation",
"homozygous R463C mutation"
] | [
"neurological involvement"
] | null | [
"Turkish"
] | [
"deficiency of the catabolic enzyme glucocerebrosidase"
] | [
"without neurological involvement"
] |
gaucher:12791040 | Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships. | [
"A sequencing protocol for the acid beta-glucosidase (GCase) gene (GBA) was developed using a long-range PCR template. This protocol has an advantage of greater DNA yields over similar strategies. Seven Gaucher's disease patients had four novel and five other rare alleles. A non-pseudogene in-frame deletion (g.2600... | [
"<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 sequencing protocol for the acid beta-glucosidase (GCase) gene (GBA)\n <span style=\"font-size: 0.8em; f... | [
"Gaucher's disease",
"Gaucher's disease type 1",
"type 2",
"neuronopathic disease",
"Gaucher's disease"
] | [
"four novel and five other rare alleles",
"non-pseudogene in-frame deletion (g.2600-2602delTAC)",
"new complex mutation (null allele)",
"g.2600-2602delTAC deletion is associated with the non-neuronopathic variant",
"F251L allele",
"Three mutant alleles",
"E326K is in trans to G202R and L444P",
"isolat... | [
"collodion skin phenotype"
] | null | null | null | [
"non-neuronopathic"
] |
gaucher:12781591 | Adult-onset neuronopathic form of Gaucher's disease: a case report. | [
"We report a patient with Gaucher's disease (GD) developing prominent neurological abnormalities in adult life confirming the existence of an adult neuronopathic form of GD. In this adult-onset form, an akinetic-rigid syndrome poorly responsive to dopatherapy, supranuclear gaze palsy, myoclonic jerks, seizures, cer... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Gaucher's disease (GD)",
"adult neuronopathic form of GD",
"GD"
] | null | [
"prominent neurological abnormalities",
"akinetic-rigid syndrome",
"supranuclear gaze palsy",
"myoclonic jerks",
"seizures",
"cerebellar ataxia",
"cognitive and psychotic disturbances",
"late-onset nervous system involvement"
] | null | null | null | [
"poorly responsive to dopatherapy"
] |
gaucher:12728788 | [Rapidly developing bone destruction in a patient with type 1 Gaucher disease]. | [
"The authors report on a 25 year-old male Gaucher patient who developed rapid bone deterioration. The patient was splenectomised at age 3 and had no signs and symptoms of bone involvement for more than 20 years. In addition to the infarction in the right tibia, severe bone necrosis was detected in components of the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 25 year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Gaucher",
"Gaucher"
] | null | [
"rapid bone deterioration",
"infarction in the right tibia",
"severe bone necrosis was detected in components of the left hip",
"bone deterioration"
] | [
"splenectomised"
] | null | null | [
"no signs and symptoms of bone involvement",
"for more than 20 years"
] |
gaucher:12708922 | Splenic lymphoma arising in a patient with Gaucher disease. A case report and review of the literature. | [
"Patients with Gaucher disease have an increased risk of malignancies, especially the lymphoreticular type. To our knowledge, this is the first reported case of Gaucher disease diagnosed during the workup and diagnosis of a splenic marginal-zone lymphoma with progression to diffuse large B-cell lymphoma. There are ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Gaucher disease",
"malignancies",
"lymphoreticular type",
"Gaucher disease",
"splenic marginal-zone lymphoma",
"diffuse large B-cell lymphoma",
"Gaucher disease",
"malignancies",
"Gaucher disease",
"nonlymphoid malignancies"
] | null | [
"chronic antigenic stimulus to the immune system"
] | null | null | [
"Polyclonal hypergammaglobulinemia"
] | null |
gaucher:12705498 | The osteodystrophy of mucolipidosis type III and the effects of intravenous pamidronate treatment. | [
"Mucolipidosis type III (ML III; McKusick 252600) is a rare lysosomal storage disease in which skeletal involvement is prominent, in particular the destruction of vertebral bodies and the femoral heads. We describe studies in two siblings with ML III that suggest the presence of a distinct metabolic bone disorder. ... | [
"<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 Mucolipidosis type III (ML III\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Mucolipidosis type III (ML III",
"rare lysosomal storage disease",
"ML III",
"metabolic bone disorder",
"bone pain",
"ML III",
"lysosomal disorder of Gaucher disease"
] | null | [
"skeletal involvement",
"destruction of vertebral bodies and the femoral heads",
"both trabecular osteopenia",
"marked subperiosteal bone resorption",
"dramatic clinical effects",
"reduction in bone pain",
"improvements in mobility"
] | [
"Intravenous pamidronate treatment given monthly for a year",
"Bisphosphonate therapy"
] | null | [
"Biochemical indices of bone turnover were increased"
] | [
"despite incomplete suppression of bone resorption as assessed by biochemical, radiographic and histological criteria"
] |
gaucher:12694162 | Enzyme replacement therapy reduces Gaucher cell burden but may accelerate osteopenia in patients with type I disease - a histological study. | [
"Enzyme replacement treatment (ERT) is effective in controlling the clinical and biochemical manifestation of type I Gaucher disease. Little is known on the evolution of bone marrow histology caused by ERT. We compared the pretreatment trephine bone marrow biopsies in five patients (F32, F41, F50, M55, and M46) 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 Enzyme replacement treatment (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"type I Gaucher disease"
] | null | [
"bone loss",
"alleviated bone manifestations",
"previous bone pains or fractures",
"osteopenia"
] | [
"Enzyme replacement treatment (ERT)",
"ERT",
"26-32 months of imiglucerase treatment",
"ERT",
"ERT"
] | null | [
"Normal hemopoiesis was markedly increased",
"reconstitution of normal hemopoiesis",
"decrease in the Gaucher cell burden",
"increased osteolytic activity"
] | null |
gaucher:12667990 | Enzyme therapy of gaucher disease: clinical and biochemical changes during production of and tolerization for neutralizing antibodies. | [
"The clinical impact of neutralizing antibodies directed against the therapeutic enzyme was investigated in patients with Gaucher disease. Two patients with Gaucher disease type 1 were followed for their clinical progression during antibody development and clinical changes during tolerization. Patient 1 developed n... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The clinical impact 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 neutralizing antibodies directed against the therapeutic enzyme\n <span style=\"fon... | [
"Gaucher disease",
"Gaucher disease type 1",
"Gaucher disease"
] | null | [
"continues to improve",
"clinical deterioration",
"Clinical stabilization",
"diminished response or deterioration"
] | [
"tolerization",
"of enzyme therapy",
"Tolerization was achieved within a 42-month period with a short course of cyclophosphamide and then higher dose enzyme (60 IU/kg/week) alone",
"100 months of enzyme therapy",
"of enzyme therapy",
"increased enzyme therapy (60 IU/kg/week)",
"12 months of enzyme thera... | null | [
"neutralizing antibodies directed against the therapeutic enzyme",
"neutralizing antibodies to imiglucerase (GCase)",
"neutralizing antibodies to GCase",
"neutralizing antibodies",
"neutralizing antibodies",
"neutralizing antibodies",
"persistence of minimal amounts of in vitro neutralizing antibodies"
... | [
"despite the presence of low level in vitro neutralizing antibodies",
"Plasma chitotriosidase activities were not well correlated with the clinical course",
"not interfere with the therapeutic effectiveness",
"Chitotriosidase"
] |
gaucher:12613522 | Lymphoplasmacytic lymphoma with monoclonal gammopathy-related pseudo-Gaucher cell infiltration in bone marrow and spleen--diagnostic and therapeutic dilemmas. | [
"Gaucher-like cells have occasionally been described in various haematological malignancies including Hodgkin's disease, non-Hodgkin's lymphoma, multiple myeloma (MM) and chronic myelogenous leukaemia (CML). A special type of this phenomenon is crystal-storing histocytosis or the so-called pseudo-pseudo Gaucher cel... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher-like cells\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"haematological malignancies",
"Hodgkin's disease",
"non-Hodgkin's lymphoma",
"multiple myeloma (MM)",
"chronic myelogenous leukaemia (CML)",
"Gaucher disease",
"monoclonal IgA gammopathy",
"plasma cell myeloma"
] | null | [
"significant haematological improvement",
"further haematological improvement"
] | [
"anti-CD20 monoclonal antibody (rituximab) with only temporary stabilisation",
"splenectomy",
"splenectomy",
"anti-CD20 therapy",
"received two courses of VAD vincristine, doxorubicin, dexamethasone)"
] | null | [
"paraproteinemia",
"activity of leukocyte beta-glucocerebrosidase was only slightly elevated (7.3 nmol/mg protein/1 h)",
"prolonged severe pancytopenia",
"hypersplenism"
] | [
"ruled out the diagnosis of classic Gaucher's disease",
"received two courses of CHOP without improvement",
"no CD-20-positive cells evident",
"complete response was not achieved"
] |
gaucher:12611487 | Gaucher disease type I complicated with Parkinson's syndrome. | [
"Gaucher disease type I is the so-called non-neuronal adult form of the autosomally inherited lysosomal storage disease. The simultaneous occurrence of Gaucher disease with Parkinson's syndrome has been reported to aggravate both disorders, leading to an unusually early onset and therapy resistance. Neurological al... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher disease type I",
"non-neuronal adult form of the autosomally inherited",
"lysosomal storage disease",
"simultaneous occurrence of Gaucher disease with Parkinson's syndrome",
"Gaucher disease type I"
] | null | [
"Neurological alterations",
"CNS bleeding",
"skeletal complications"
] | [
"combination therapy for 5 years"
] | null | null | [
"therapy resistance"
] |
gaucher:12592553 | Severe pathologic compression of three consecutive vertebrae in Gaucher's disease: a case report and review of the literature. | [
"To date, only one patient with spinal affection of Gaucher's disease requiring surgery for spinal compression has been reported. We present an additional case with extensive affection of three consecutive vertebral bodies, and present a review of the literature relating to the management of therapy and follow-up o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To date, only one patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n spinal affection\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Gaucher's disease"
] | null | [
"spinal affection",
"extensive affection of three consecutive vertebral bodies"
] | [
"surgery for spinal compression"
] | null | null | null |
gaucher:12584549 | A patient with type 2 Gaucher's disease with respiratory disease. | [
"A 5-month-old boy had respiratory problems and gastroesophageal reflux. Electron microscopy of a tracheal biopsy specimen showed accumulation of lamellar bodies in the columnar cells indicative of lysosomal storage disease. Subsequently, the child had neurologic symptoms and hepatosplenomegaly, and the diagnosis o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 5-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease type 2"
] | null | [
"respiratory problems",
"gastroesophageal reflux",
"neurologic symptoms",
"hepatosplenomegaly"
] | null | null | null | null |
gaucher:12581195 | Rebound hepatosplenomegaly in type 1 Gaucher disease. | [
"A 19-year-old male patient with type 1 Gaucher disease was put on regular biweekly infusions of alglucerase. After 1 yr of treatment, hepatic and splenic volumes decreased from 38 and 45 mL/kg to 31 and 34 mL/kg, respectively. In addition, hemoglobin concentration, platelet count and white cell count increased, ac... | [
"<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 19-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"type 1 Gaucher disease",
"Gaucher disease"
] | null | [
"hepatic and splenic volumes decreased from 38 and 45 mL/kg to 31 and 34 mL/kg",
"gained weight and energy",
"muscle rigidity",
"chest pain",
"trembling",
"hepatic and splenic volumes increased to 36 and 53 mL/kg and to 53 and 110 mL/kg",
"non-tractable hematuria",
"compression and dislocation of the ... | [
"put on regular biweekly infusions of alglucerase",
"After 1 yr of treatment",
"cessation of therapy",
"splenectomy",
"cessation of ERT"
] | null | [
"hemoglobin concentration, platelet count and white cell count increased",
"acid phosphatase level decreased"
] | [
"Despite improvement",
"refused enzyme replacement therapy (ERT)",
"anxiety, which he attributed to enzyme substitution"
] |
gaucher:12578302 | Neonatal cholestasis and infantile Gaucher disease: a case report. | [
"To report on clinical complications of liver disease occurring during Gaucher disease.",
"A case of Gaucher disease was revealed by neonatal cholestasis and early onset of portal hypertension.",
"At 7 d of age, a newborn was admitted for cholestasis associated with hepatosplenomegaly and thrombocytopenia. At t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n clinical complications of liver disease\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Gaucher disease",
"Gaucher disease",
"cholestasis",
"Gaucher disease",
"Gaucher disease"
] | null | [
"clinical complications of liver disease",
"cholestasis",
"early onset of portal hypertension",
"hepatosplenomegaly",
"early progressive portal hypertension",
"died",
"uncontrollable upper gastrointestinal bleeding",
"Isolated neonatal cholestasis"
] | null | null | [
"thrombocytopenia"
] | [
"did not reveal any engorged cells",
"do not reveal any engorged cells"
] |
gaucher:12522789 | Gaucher disease associated with parkinsonism: four further case reports. | [
"Type 1 Gaucher disease is considered the non-neuronopathic form of this autosomal recessively inherited lysosomal storage disease. We report the simultaneous occurrence of Gaucher disease with parkinsonian in four adult patients. The patients had a relatively early onset of parkinsonian manifestations, and their d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type 1 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Type 1 Gaucher disease",
"non-neuronopathic",
"lysosomal storage disease",
"simultaneous occurrence of Gaucher disease with parkinsonian"
] | [
"autosomal recessively inherited",
"different Gaucher genotype",
"four alleles carried the common N370S mutation"
] | [
"early onset of parkinsonian manifestations",
"rapidly progressive"
] | null | null | null | [
"refractory to therapy",
"No mutations were identified in the genes for parkin or alpha-synuclein"
] |
gaucher:12492809 | Subarachnoid anesthesia in a patient with type I Gaucher disease. | [
"Gaucher's disease is a rare genetic disorder characterized by lack or functional insufficiency of glucocerebrosidase, an enzyme accountable for intracellular hydrolysis of glucosyl ceramide and other glycosphingolipids, which results in macrophage storage in the mononuclear-macrophage system. The severity of 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher's disease",
"type I Gaucher's disease",
"Type I Gaucher's disease",
"type I Gaucher's disease"
] | [
"rare genetic disorder"
] | null | [
"enzyme replacement therapy (alglucerase)",
"surgery for subcapital hip fracture",
"subarachnoid anesthesia",
"perioperative anesthetic management"
] | null | [
"lack or functional insufficiency of glucocerebrosidase",
"enzyme acid beta-glucosidase activity in a sample of blood leukocyte"
] | null |
gaucher:12485173 | Gaucher's disease: morphological findings in a case studied with fine needle aspiration. | [
"Fine needle aspiration (FNA) is a diagnostic tool whose inexpensiveness, simplicity and innocuousness have led it to be increasingly accepted in daily medical practice. This method, which is useful for the study of lesions that are accessible by radiological exploration or palpation, provides information about the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fine needle aspiration (FNA)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | null | null | null | null | null | null | null |
gaucher:12476451 | Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. | [
"Gaucher disease, a common lysosomal storage disorder, is associated with mutations at the acid beta-glucosidase (GCase) locus. Two affected individuals are described to share a common mutant allele, but manifest different clinical categorical phenotypes. A 57-year-old female, with Gaucher disease type 1 and Cherok... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disorder",
"Gaucher disease type 1",
"Gaucher disease type 3"
] | [
"mutations at the acid beta-glucosidase (GCase) locus",
"common mutant allele",
"homozygous for a rare mutant allele encoding Lys79Asn (K79N)",
"heteroallelic homozygote for this same allele (K79N) and a novel complex mutation (null allele)",
"The shared alleles were identical",
"founder effect"
] | [
"discrepant phenotypes (types 1 and 3)"
] | null | [
"Cherokee ancestry",
"Caucasian",
"Cherokee ancestry"
] | [
"threshold of residual activity necessary to \"protect\" the central nervous system (CNS) from the pathogenic effects of Gaucher disease"
] | null |
gaucher:12440275 | Enzyme replacement therapy for Gaucher Disease: the only experience in Malaysia. | [
"Gaucher Disease may now be treated with enzyme replacement therapy (ERT) or bone marrow transplantation (BMT). Both have their advantages and disadvantages. Results with BMT are curative when successful but limited by the scarcity of an appropriate donor. ERT offers very good relief of symptoms but treatment is li... | [
"<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"
] | null | [
"very good relief of symptoms"
] | [
"enzyme replacement therapy (ERT)",
"bone marrow transplantation (BMT)",
"BMT",
"ERT",
"treatment is lifelong"
] | null | null | null |
gaucher:12416562 | Cerebellar granular layer aplasia in congenital hydrocephalus. | [
"An unusual case of cerebellar granular layer aplasia is reported. A 5-year-old boy was born with hydrocephalus and a peritoneal drainage shunt was placed after the delivery. Symptoms of cerebral paralysis, impaired mental function and cerebellar ataxia had developed gradually. Patient's karyotype was 46,XY. Labora... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An unusual 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 cerebellar granular layer aplasia\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"hydrocephalus",
"phenylketonuria",
"galactosemia"
] | [
"karyotype was 46,XY"
] | [
"cerebellar granular layer aplasia",
"cerebral paralysis",
"impaired mental function",
"cerebellar ataxia"
] | [
"peritoneal drainage shunt was placed after the delivery"
] | null | null | [
"Laboratory tests for cytomegalovirus, Herpes simplex virus, Toxoplasma gondii, human immunodeficiency virus, rubella and hepatitis B virus were negative",
"no signs of Tay-Sachs disease, Niemann-Pick disease, Gaucher disease",
"or glycogen storage disease",
"Radiation exposure and infections during the pregn... |
gaucher:12357022 | Enzyme replacement therapy in the management of longstanding skeletal and soft tissue salmonella infection in a patient with Gaucher's disease. | [
"A splenectomised patient with Gaucher's disease who developed multiple foci of osteomyelitis and soft tissue abcesses, after a severe episode of group C salmonella sepsis, is described. Aggressive antibiotic treatment and surgical drainage had little effect and the patient's condition continued to deteriorate. Wit... | [
"<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 splenectomised\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Gaucher's disease",
"severe episode of group C salmonella sepsis",
"healing bacterial infections",
"Gaucher's disease"
] | null | [
"multiple foci of osteomyelitis and soft tissue abcesses",
"continued to deteriorate",
"defervescence",
"gradual healing",
"Complete resolution of the infection"
] | [
"splenectomised",
"initiation of enzyme replacement therapy (ERT) in addition to specific antibiotic treatment",
"15 months",
"ERT"
] | null | null | [
"Aggressive antibiotic treatment and surgical drainage had little effect"
] |
gaucher:12216754 | Multiple hypoechoic hepatic lesions in a patient with Gaucher disease. | [
"The most common symptoms of Gaucher disease include hepatosplenomegaly and anemia and thrombocytopenia due to hypersplenism. We describe the case of a patient with Gaucher disease who had cachexia, massive hepatomegaly, and multiple focal hepatic lesions. The clinical and radiologic findings suggested malignancy. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The most common symptoms 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-heig... | [
"Gaucher disease",
"Gaucher disease",
"malignancy",
"hematologic malignancies",
"Gaucher disease"
] | null | [
"hepatosplenomegaly",
"cachexia",
"massive hepatomegaly",
"multiple focal hepatic lesions"
] | null | null | [
"anemia",
"thrombocytopenia",
"hypersplenism"
] | null |
gaucher:12195308 | Mesenteric mass in a young girl--an unusual site for Gaucher's disease. | [
"We report the first case of a child with Gaucher's disease and a large mesenteric mass, confirmed histologically to be Gaucher's cell infiltrates. We describe the radiological findings and discuss further management. The advent of enzyme replacement therapy has prolonged survival and the emergence of previously un... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the first 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 child\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"large mesenteric mass",
"palpable right upper-quadrant mass"
] | [
"enzyme replacement therapy"
] | null | null | [
"hepatomegaly"
] |
gaucher:12187028 | Thrombocytosis associated with enzyme replacement therapy in Gaucher disease. | [
"We describe a patient with an intact spleen and moderately severe symptoms of Gaucher disease in whom, after initiation of (low-dose) enzyme replacement therapy (ERT), thrombocytosis (720 x 10(9)/l) was documented. Checking the International Gaucher Registry database revealed that this patient is the only nonsplen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a patient with an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intact spleen\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Gaucher disease"
] | null | [
"intact spleen",
"moderately severe symptoms"
] | [
"initiation of (low-dose) enzyme replacement therapy (ERT)",
"nonsplenectomized"
] | null | [
"thrombocytosis (720 x 10(9)/l)",
"ERT-induced thrombocytosis",
"Platelet counts dropped immediately after the discontinuation of ERT"
] | null |
gaucher:12168187 | Cemented revision total hip arthroplasty with impaction bone grafting in Gaucher's disease. | [
"Total hip arthroplasty in Gaucher's disease has been associated with high rates of loosening after all types of arthroplasty. We present a patient with type 1 Gaucher's disease who underwent revision cemented total hip arthroplasty for aseptic loosening after 12 months of enzyme replacement therapy. Major osteolys... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Total hip arthroplasty\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher's disease",
"type 1 Gaucher's disease",
"Gaucher's disease"
] | null | [
"aseptic loosening",
"Major osteolysis",
"excellent clinical and radiographic"
] | [
"Total hip arthroplasty",
"of arthroplasty",
"revision cemented total hip arthroplasty",
"12 months of enzyme replacement therapy",
"impaction morcellized bone grafting",
"Enzyme replacement therapy combined with modern revision techniques"
] | null | null | null |
gaucher:12163901 | Gaucher's disease with myocardial involvement in pregnancy. | [
"Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of glucosylceramide in glucose and ceramide. The accumulation of glucosylceramid... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Described originally in 1882, \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-... | [
"Gaucher's disease",
"storage disorders",
"Gaucher's disease",
"pregnancy"
] | [
"autosomal recessive disease",
"defective gene responsible for coding the beta-glucosidase enzyme"
] | [
"neurological involvement",
"liver and spleen enlargement",
"hematological disorders",
"bone lesions",
"congestive heart failure due to myocardial involvement",
"hepatomegaly",
"ascites",
"portal hypertension",
"good perinatal results"
] | [
"pregnancies",
"conservative treatment",
"two successful pregnancies"
] | null | [
"hydrolysis of glucosylceramide in glucose and ceramide",
"chronic anemia"
] | [
"asymptomatic following earlier splenectomy",
"No hemorrhagic complications"
] |
gaucher:12140872 | Is it possible to identify siblings by studying bone marrow under a microscope? Two unusual cases of Gaucher disease. | [
"Two cases of Gaucher disease have been reported in siblings, in whom an unusual similar histological pattern permitted the pathologist (BP) to identify family relation of patients bearing different names."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Gaucher disease"
] | null | [
"unusual similar histological pattern"
] | null | null | null | null |
gaucher:12127332 | Application of delayed extraction-matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in pericardial fluid, peritoneal fluid and serum from Gaucher disease patients. | [
"Gaucher disease is a glycolipid storage disorder characterized by the accumulation of glucosylceramide. Using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE-MALDI-TOF-MS), we analyzed sphingolipids in pericardial fluid, peritoneal fluid, and serum from two 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"glycolipid storage disorder",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | null | null | [
"mild alkaline treatment of the crude lipids"
] | null | null | null |
gaucher:12118528 | Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in two patients with type I Gaucher disease. | [
"Pulmonary hypertension (PHT) is a complication of Gaucher disease. Screening with echocardiography is recommended for Gaucher patients. Two patients naive to enzyme replacement therapy are presented in whom resting echocardiography revealed no evidence of PHT. One of the patients also had normal pulmonary artery p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pulmonary hypertension (PHT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Gaucher disease",
"Gaucher",
"PHT",
"PHT",
"Gaucher disease"
] | null | [
"Pulmonary hypertension (PHT)"
] | [
"naive to enzyme replacement therapy"
] | null | null | [
"no evidence of PHT",
"normal pulmonary artery pressures at cardiac catheterization",
"fail to identify PHT"
] |
gaucher:12087590 | Gaucher disease with nephrotic syndrome: response to enzyme replacement therapy. | [
"Nephrotic syndrome in patients with Gaucher disease is rare; most of the few reported cases have had a well-defined glomerulopathy often with Gaucher cells in the glomeruli. We report the case of a 54-year-old woman with Gaucher disease, who had splenectomy at age 25, preeclampsia with renal biopsy disclosing only... | [
"<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 Nephrotic syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Nephrotic syndrome",
"Gaucher disease",
"glomerulopathy",
"Gaucher disease",
"preeclampsia",
"nephrotic syndrome",
"Gaucher disease"
] | null | [
"amelioration of systemic symptoms"
] | [
"splenectomy",
"Enzyme replacement",
"specific enzyme replacement"
] | null | [
"improvement of proteinuria",
"reappearance of heavy proteinuria (7.2 g/24 h)",
"virtual disappearance of proteinuria"
] | [
"did not receive therapy specifically for glomerular disease"
] |
gaucher:12042560 | Gaucher's disease and fatal hepatic fibrosis despite prolonged enzyme replacement therapy. | [
"We report on the case of a girl with type 1 Gaucher's disease, treated from age 9 to 15 with high-dose enzyme replacement therapy. This treatment did not avert the development of an extensive mutilating hepatic fibrosis warranting a liver transplantation, which was followed by death. In some cases of Gaucher's dis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on 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 girl\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"type 1 Gaucher's disease",
"Gaucher's disease"
] | null | [
"death"
] | [
"treated from age 9 to 15",
"high-dose enzyme replacement therapy",
"fractionated or further increased ERT",
"gene therapy",
"glucosyltransferase inhibitor"
] | null | null | [
"treatment did not avert the development of an extensive mutilating hepatic fibrosis",
"warranting a liver transplantation"
] |
gaucher:11999980 | Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease. | [
"The lipid composition or the liver, spleen, brain, cerebellum and cerebrospinal fluid of a Gaucher disease type II patient who died at the age of 5 months was examined. The glycolipid analysis demonstrated a marked increase of total amounts not only in the peripheral tissues but also in the brain cerebellum and ce... | [
"<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 lipid composition or the liver, spleen, brain, cerebellum and cerebrospinal fluid\n <span style=\"font... | [
"Gaucher disease type II",
"neuronopathic Gaucher disease"
] | null | [
"died",
"brain damage"
] | null | null | null | null |
gaucher:11992489 | Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). | [
"A 20-month-old girl with developmental delay, dysmorphic features, horizontal supranuclear gaze palsy, retrocollis, and episodes of laryngospasm was diagnosed with variant neuronopathic Gaucher disease. The diagnosis was made enzymatically. Mutation analysis showed compound heterozygosity for D409H and a previousl... | [
"<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 20-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"variant neuronopathic Gaucher disease",
"variant neuronopathic Gaucher disease",
"variant Gaucher disease"
] | null | [
"developmental delay",
"dysmorphic features",
"horizontal supranuclear gaze palsy",
"retrocollis",
"episodes of laryngospasm",
"dysmorphic features",
"laryngospasm",
"absent cardiac findings",
"severe clinical phenotype"
] | null | null | null | null |
gaucher:11934514 | Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in cultured skin fibroblasts from sphingolipidosis patients. | [
"Sphingolipidoses are caused by defects of enzymes involved in the hydrolysis of sphingolipids. Using delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry (DE MALDI-TOF-MS), we analyzed sphingolipids in cultured skin fibroblasts from patients with sphingolipidoses, includi... | [
"<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 Sphingolipidoses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Sphingolipidoses",
"sphingolipidoses",
"Farber disease (FD, acid ceramidase deficiency)",
"Gaucher disease (GD)",
"Niemann-Pick disease type C (NPDC)",
"GM1-gangliosidosis (GM1G)",
"FD",
"GD",
"NPDC",
"GM1G",
"sphingolipidoses",
"FD",
"GD"
] | null | null | [
"mild alkaline treatment"
] | null | [
"defects of enzymes involved in the hydrolysis of sphingolipids",
"the monohexosylceramide/sphingomyelin ratio was within normal range"
] | [
"no specific data were obtained",
"GM1-ganglioside or its asialo derivatives are not detectable"
] |
gaucher:11904743 | Successful pregnancy outcome in a patient with Gaucher's disease and antiphospholipid syndrome. | [
"Gaucher's disease is characterized by increased incidence of several autoantibodies, but autoimmune phenomena are rare in Gaucher patients. We report the first occurrence of Gaucher's disease and antiphospholipid syndrome in the same patient. A 27-year-old woman with hepatosplenomegaly and thrombocytopenia who 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's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher",
"Gaucher's disease",
"antiphospholipid syndrome",
"Gaucher's disease with the genotype 1226G/1226G",
"antiphospholipid syndrome",
"Gaucher"
] | null | [
"autoimmune phenomena",
"hepatosplenomegaly",
"recurrent abortions",
"successful pregnancy outcome"
] | [
"combined therapy with aspirin, low-molecular-weight heparin, prednisone",
"enzyme replacement therapy with imiglucerase"
] | null | [
"increased incidence of several autoantibodies",
"thrombocytopenia",
"Coombs'-positive hemolytic anemia",
"high titer of IgG and IgM anticardiolipin antibodies",
"antiphospholipid antibodies found in the sera"
] | null |
gaucher:11852732 | Immunohistochemical and ultrastructural features of Gaucher's cells--five case reports. | [
"Gaucher's disease is an autosomal recessive lysosomal storage disease resulting from glucocerebrosidase deficiency. In this report, five patients with adult Gaucher's disease are described. The clinical course of these patients was characterized by progressive diffuse aseptic necrosis in the large bones, so-called... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"lysosomal storage disease",
"Gaucher's disease",
"Gaucher's disease"
] | [
"autosomal recessive"
] | [
"progressive diffuse aseptic necrosis in the large bones",
"so-called Erlenmeyer's flask deformity",
"hepatosplenomegaly",
"Splenomegaly"
] | [
"splenectomy"
] | null | [
"glucocerebrosidase deficiency",
"hypersplenism",
"anemia",
"thrombocytopenia"
] | null |
gaucher:11814305 | Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapy. | [
"Gaucher disease, in most cases, is the result of mutations in the beta-glucocerebrosidase gene. More than 150 such mutations have been identified so far. Mutation D409H is the second most frequent in Greek patients, accounting for 15.5% of all identified mutated alleles. D409H homozygosity has, so far, been associ... | [
"<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 III subtype of Gaucher disease",
"Gaucher disease"
] | [
"mutations in the beta-glucocerebrosidase gene",
"Mutation D409H",
"mutated alleles",
"D409H homozygosity",
"D409H/D409H genotype"
] | [
"devastating valvular heart disease",
"oculomotor apraxia",
"features normally associated with mucopolysaccharidoses or oligosaccharidoses",
"severe neurological involvement",
"organomegaly"
] | null | [
"Greek",
"Greek"
] | null | [
"Enzyme replacement therapy",
"while improving the hematological parameters",
"failed to improve or even arrest the neurological condition"
] |
gaucher:11743514 | Gaucher disease with pulmonary involvement in a 6-year-old girl: report of resolution of radiographic abnormalities on increasing dose of imiglucerase. | [
"We report resolution of ground-glass appearance in high-resolution computed tomography of chest in a 6-year-old girl who had Gaucher disease with pulmonary involvement. This radiographic abnormality, which developed during the course of enzyme replacement therapy at doses between 20 to 60 U/kg/2 weeks, resolved wh... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n resolution of ground-glass appearance in high-resolution computed tomography of chest\n <span st... | [
"Gaucher disease"
] | null | [
"resolution of ground-glass appearance in high-resolution computed tomography of chest",
"pulmonary involvement",
"radiographic abnormality"
] | [
"enzyme replacement therapy at doses between 20 to 60 U/kg/2 weeks",
"the dose was increased to 100 U/kg/2 weeks",
"trial of escalating dosage"
] | null | null | [
"failure of response at lower doses"
] |
gaucher:11708865 | Heterologous expression and characterization of a rare Gaucher disease mutation (c.481C > T) from a Canadian aboriginal population using archival tissue samples. | [
"Gaucher disease is an inherited sphingolipidosis resulting from deleterious mutations in the glucocerebrosidase gene. Through direct sequence analysis of genomic DNA from whole blood, fibroblast cultures, and formalin-fixed archival tissue samples, we have identified a rare homozygous C > T transition at cDNA nucl... | [
"<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",
"severe visceral Gaucher disease",
"JB",
"Type 3 Gaucher phenotype"
] | [
"inherited sphingolipidosis",
"deleterious mutations in the glucocerebrosidase gene",
"rare homozygous C > T transition at cDNA nucleotide 481 of the glucocerebrosidase gene that results in a proline to serine amino acid substitution (p.P122S)",
"Gaucher mutations"
] | [
"developmentally delayed",
"oculomotor apraxia",
"developmentally delayed",
"oculomotor apraxia"
] | [
"treated with enzyme replacement",
"enzyme replacement therapy"
] | [
"aboriginal",
"Cree descent",
"northern Alberta",
"Canada",
"Cree Nation"
] | [
"19.2% of normal enzyme activity on the artificial substrate 4-methylumbelliferyl beta-d-glucopyranoside (4MUGP)"
] | [
"enzyme replacement therapy",
"excluding other genetic and environmental causes of developmental delay",
"traditional DNA sources are unavailable"
] |
gaucher:11600137 | Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase. | [
"The beneficial effects of macrophage-targeted glucocerebrosidase (alglucerase, Ceredase) in patients with Gaucher disease are well established. A minority of recipients develop transient non-neutralizing antibodies to the exogenous enzyme. A 7-year-old patient with type 3 Gaucher disease, whose clinical course beg... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The beneficial effects 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 macrophage-targeted glucocerebrosidase (alglucerase, Ceredase)\n <span style=\"f... | [
"Gaucher disease",
"type 3 Gaucher disease",
"type 3 Gaucher disease"
] | [
"compound heterozygote for a previously reported missense mutation (G377S), and a novel single nucleotide deletion (g5255delT)",
"The transcript originating from the latter allele was undetectable",
"GBA genotype"
] | [
"clinical course began to deteriorate"
] | [
"macrophage-targeted glucocerebrosidase (alglucerase, Ceredase)",
"receiving alglucerase",
"enzyme replacement therapy"
] | null | [
"transient non-neutralizing antibodies to the exogenous enzyme",
"progressively increasing titer of IgG antibody, that blocked the catalytic activity of alglucerase",
"acid beta-glucosidase deficiency",
"development of neutralizing antibody to alglucerase"
] | null |
gaucher:11592516 | Gaucher disease type I: analysis of two cases with thalassemic facies and pulmonary arteriovenous fistulas. | [
"Here we report two unusual patients with Gaucher disease type I. Both girls admitted with hepatosplenomegaly, growth retardation, and anemia at four and 2.5 years of age, and Gaucher cells were seen on bone marrow aspirates. Thalassemic face was first noted at 8 and 11 years of age, respectively, with frontal boss... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Here we report two unusual patients with Gaucher disease type I. Both \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n girls\n <span style=\"font-size: 0.8... | [
"hemolytic diseases",
"Gaucher disease"
] | [
"mutations N370S7/L444P",
"and N370S/?"
] | [
"hepatosplenomegaly",
"growth retardation",
"Thalassemic face",
"frontal bossing",
"maxillary hypertrophia",
"typical bone involvement",
"costal enlargement",
"obliteration of paranasal sinuses",
"Cyanosis",
"digital clubbing",
"recurrent lung infections",
"diffuse pulmonary arteriovenous shun... | null | null | [
"anemia",
"unconjugated hyperbilirubinemia",
"high reticulocytes",
"polychromasia",
"low leukocyte beta glucosidase levels"
] | [
"other laboratory tests for hemolytic disease were negative"
] |
gaucher:11518109 | Initiation of enzyme replacement therapy for an adult patient with asymptomatic type 1 Gaucher's disease. | [
"A 27-year-old woman was admitted for further examination of thrombocytopenia. Symptoms were absent, but physical examination demonstrated hepatosplenomegaly without neurological abnormalities. Bone marrow examination revealed many Gaucher cells, and glucocerebrosidase activity from cultured skin fibroblasts was ma... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 27-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease"
] | [
"A 1448C (L444P) mutation was detected on one allele of the glucocerebrosidase gene"
] | [
"hepatosplenomegaly",
"visceral and bone involvement",
"hepatosplenomegaly"
] | [
"enzyme replacement therapy"
] | null | [
"thrombocytopenia",
"glucocerebrosidase activity from cultured skin fibroblasts was markedly reduced",
"Hematologic abnormalities",
"thrombocytopenia"
] | [
"Symptoms were absent",
"without neurological abnormalities",
"despite the absence of skeletal symptoms"
] |
gaucher:11509013 | Gaucher disease and parkinsonism: a phenotypic and genotypic characterization. | [
"Among the many phenotypes associated with Gaucher disease, the inherited deficiency of glucocerebrosidase, are reports of patients with parkinsonian symptoms. The basis for this association is unknown, but could be due to alterations in the gene or gene region. The human glucocerebrosidase gene, located on chromos... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Among the many phenotypes associated with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Gaucher disease",
"mild Gaucher disease"
] | [
"inherited deficiency of glucocerebrosidase",
"alterations in the gene or gene region",
"human glucocerebrosidase gene, located on chromosome 1q21, has a nearby pseudogene that shares 96% identity",
"to the glucocerebrosidase pseudogene",
"convergently transcribed gene, metaxin, which has a pseudogene that ... | [
"parkinsonian symptoms",
"impaired horizontal saccadic eye movements",
"tremor",
"rapid deterioration of her gait",
"motor and cognitive deterioration"
] | [
"pallidotomy"
] | null | null | [
"was unsuccessful",
"despite enzyme replacement therapy"
] |
gaucher:11507294 | Bone, bone marrow, and MIBI scintigraphic findings in Gaucher's disease "bone crisis". | [
"The authors report the utility of Tc-99m MIBI imaging in Gaucher's disease, which results in the accumulation of glucocerebroside in macrophages. Inflated macrophages, or Gaucher's cells, involve the reticuloendothelial organs.",
"A 38-year-old man with type I Gaucher's disease, splenectomy, and early bone invol... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report the utility 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 Tc-99m MIBI imaging\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Gaucher's disease",
"type I Gaucher's disease",
"Avascular necrosis in the left iliac bone"
] | null | [
"early bone involvement",
"low back \"bone crisis",
"The left iliac bone, the sacrum, and the adjacent part of L5 showed heterogeneously decreased uptake on bone scintigraphs"
] | [
"splenectomy",
"history of total left hip replacement"
] | null | null | [
"Results of pelvic radiographs were normal",
"Hematopoietic bone marrow was absent in these regions and in the left femur",
"No infection of the prosthesis was revealed with labeled granulocytes",
"no uptake of MIBI in the iliac bones or the femurs"
] |
gaucher:11499783 | Pseudo-osteomyelitic crisis upon presentation of Gaucher disease. | [
"We report on a 4-year-old boy adopted from Paraguay who presented with an acute onset of thigh pain. Initial clinical, imaging, and histopathologic findings suggested florid osteomyelitis. However, the development of pancytopenia on intravenous antibiotics prompted further investigation and the ultimate diagnosis ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 4-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"florid osteomyelitis",
"Gaucher disease",
"pseudo-osteomyelitis",
"osteomyelitis"
] | null | [
"acute onset of thigh pain",
"characteristic changes on conventional radiographic and MR images"
] | [
"intravenous antibiotics"
] | [
"Paraguay"
] | [
"pancytopenia"
] | null |
gaucher:11475003 | Mild thrombocytopenia as presenting symptom of type 1 Gauchers's disease. | [
"A young woman was examined for a mild thrombocytopenia which was present for some months. No signs of bleeding had so far occurred. Physical examination was normal except for a moderately enlarged spleen. Laboratory investigations showed a low platelet count. There was no evidence of an autoimmune or hematologic d... | [
"<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 young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Gaucher's disease",
"adult-onset or type 1 form of Gaucher's disease"
] | null | [
"moderately enlarged spleen"
] | null | null | [
"mild thrombocytopenia",
"low platelet count",
"deficient lysosomal glucosylceramide-beta-D-glucosidase activity in peripheral blood leukocytes"
] | [
"No signs of bleeding had so far occurred",
"Physical examination was normal",
"no evidence of an autoimmune or hematologic disease",
"absence of neurologic involvement"
] |
gaucher:11359469 | Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. | [
"Gaucher's disease is an autosomal recessive inherited defect of the lysosomal enzyme glucocerebrosidase, which leads to glucocerebroside accumulation in the reticuloendothelial system. Homozygosity for the D409H mutation has been associated with cardiovascular valvular disease. We present a case of a 17-year-old P... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"cardiovascular valvular disease"
] | [
"autosomal recessive inherited",
"Homozygosity for the D409H mutation",
"homozygous for the D409H mutation in the glucocerebrosidase gene"
] | [
"severe aortic and mitral valvular calcification",
"calcification of the ascending aorta, the aortic arch and the ostia of his coronary arteries",
"dyspnea",
"chest pain",
"documented aortic valve calcification",
"severe valvular calcification",
"severely calcified aorta with almost no motion of the aor... | [
"extensive cardiac surgery with aortic and mitral valve replacements",
"Enzyme therapy with imiglucerase"
] | [
"Palestinian"
] | [
"defect of the lysosomal enzyme glucocerebrosidase",
"enzyme assay for glucocerebrosidase activity was 5 nm/h/mg protein (normal 13-22 nm/h/mg)"
] | null |
gaucher:11345203 | Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases. | [
"Gaucher disease is a genetic lipid storage disease and represents a potentially serious health problem. It arises from a deficiency of glucocerebrosidase activity with secondary accumulation of large quantities of glucocerebroside. Symptoms are usually multisystemic, often debilitating or disabling, and sometimes ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"genetic lipid storage disease",
"type 1 Gaucher disease",
"type 1 Gaucher disease",
"Gaucher disease"
] | null | [
"multisystemic",
"debilitating or disabling",
"disfiguring",
"death",
"safely and effectively arresting, decreasing, or normalizing many of its major signs and symptoms",
"hepatosplenomegaly"
] | [
"repeated infusion of human placental and recombinant glucocerebrosidase",
"enzyme administration",
"Enzyme replacement therapy"
] | null | [
"deficiency of glucocerebrosidase activity",
"increased hemoglobin levels and platelet counts",
"cryptogenic pancytopenia"
] | null |
gaucher:11336129 | Type II Gaucher disease: compound heterozygote with RecNciI and L444P mutations. | [
"We report the phenotype and genotype of an Indonesian Chinese boy with type II Gaucher disease. He had a unique presentation of recurrent cyanosis from laryngospasm. He was compound heterozygous for L444P/L444P + A456P + V460V. There have been few reports of this heterozygosity and its phenoptype. This genotype-ph... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the phenotype and genotype of an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Indonesian\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"type II Gaucher disease",
"Type II Gaucher disease"
] | null | [
"recurrent cyanosis from laryngospasm"
] | null | [
"Indonesian",
"Chinese",
"Southeast Asia"
] | null | null |
gaucher:11328301 | High-grade lymphoma mimicking bone crisis in Gaucher's disease. | [
"A 33-year-old woman with type 1 Gaucher's disease developed painful swelling of her right tibia. Initial diagnostics suggested a typical bone crisis. However, clinical course and subsequent imaging pointed to malignant disease, which was specified as high-grade lymphoma. Chemotherapy was applied together with enzy... | [
"<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 33-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"type 1 Gaucher's disease",
"malignant disease",
"high-grade lymphoma",
"Gaucher's disease",
"neoplastic infiltration"
] | null | [
"painful swelling of her right tibia",
"complete remission of the lymphoma",
"osseous lesions"
] | [
"Chemotherapy",
"together with enzyme replacement"
] | null | null | [
"typical bone crisis"
] |
gaucher:11309366 | A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. | [
"A fatal infantile storage disorder with hepatosplenomegaly and severe neurological disease is described. Sphingolipids, including monohexosylceramides (mainly glucosylceramide), dihexosylceramides (mainly lactosylceramide), globotriaosyl ceramide, sulphatides, ceramides and globotetraosyl ceramide, were stored in ... | [
"<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 fatal infantile storage disorder\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"fatal infantile storage disorder"
] | [
"homozygous for a 1 bp deletion (c.803delG) within the SAP-B domain of the prosaposin gene which leads to a frameshift and premature stop codon",
"mutant cDNA was",
"the mutant mRNA was rapidly degraded"
] | [
"hepatosplenomegaly",
"severe neurological disease",
"neuropathology",
"neuronal storage and loss",
"massive depopulation of cortical neurons",
"signs of active demyelination"
] | null | [
"eastern Slovakia"
] | [
"saposins A, B, C and D were all deficient",
"Saposins were also deficient",
"prosaposin deficiency"
] | [
"cholesterol and sphingomyelin levels were unaltered"
] |
gaucher:11262263 | [Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy]. | [
"Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The D409H mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular calcifications in late childhood. We report a 4-year-old patient, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher'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"
] | [
"mutations in the gene encoding glucocerebrosidase",
"D409H mutation",
"homozygous for the D409H mutation"
] | [
"oculomotor apraxia",
"cardiac valvular calcifications"
] | [
"Enzyme replacement therapy was started at the age of 2months",
"4years of treatment"
] | [
"Spain"
] | null | null |
gaucher:11241475 | Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease. | [
"While the inherited deficiency of the enzyme glucocerebrosidase (Gaucher disease) is panethnic in its distribution, there have not been studies of the mutations encountered in specific ethnic groups in the United States, other than those on Ashkenazi Jews. We present the clinical descriptions and genotypes of seve... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">While 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 inherited deficiency of the enzyme glucocerebrosidase\n <span style=\"font-size: 0.8em; font-wei... | [
"(Gaucher disease)",
"type 1 Gaucher disease",
"type 1 Gaucher disease"
] | [
"inherited deficiency of the enzyme glucocerebrosidase",
"common mutations N370S, c.84-85insG, IVS2+1 G-->A, and R463C",
"Mutation L444P was present on one allele",
"same mutation was encountered as a single point mutation",
"and as part of a recombinant allele",
"glucocerebrosidase fusion allele",
"dup... | [
"moderate-to-severe manifestations of the disease"
] | null | [
"Ashkenazi Jews",
"African-American",
"African-American"
] | null | null |
gaucher:11236058 | Neurological features in Gaucher's disease during enzyme replacement therapy. | [
"This report describes two patients with Gaucher's disease who had unusual clinical symptoms during enzyme replacement therapy. One patient was a female with type 3 Gaucher's disease. She developed a pericardial effusion at 7 y of age, which contained many Gaucher cells despite enzyme replacement therapy. She died ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report describes two patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Gaucher's disease",
"type 3 Gaucher's disease",
"type 2 Gaucher's disease",
"ichthyosis",
"Gaucher's disease"
] | null | [
"unusual clinical symptoms",
"pericardial effusion",
"died",
"neurological deterioration",
"generalized cutaneous disease"
] | [
"enzyme replacement therapy",
"enzyme replacement therapy",
"long-term survival",
"supported by mechanical ventilation",
"enzyme replacement therapy",
"on enzyme replacement therapy"
] | null | null | [
"despite enzyme replacement therapy",
"despite an improvement in her visceral manifestations",
"ordinary enzyme replacement therapy is insufficient for"
] |
gaucher:11195024 | Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb. | [
"Enzyme replacement therapy might improve chronic liver dysfunction and contribute to the resolution of basal ganglia lesions in patients with type 3b Gaucher disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"type 3b Gaucher disease"
] | null | [
"chronic liver dysfunction",
"resolution of basal ganglia lesions"
] | [
"Enzyme replacement therapy"
] | null | null | null |
gaucher:11174510 | Pregnancy after avascular necrosis of the femur complicating Gaucher's disease. | [
"A patient with type I Gaucher's disease had avascular necrosis of the right femoral head that resulted in an altered bony pelvis and marked restriction of right hip abduction. Enzyme replacement therapy with alglucerase prevented further deterioration and improved thrombocytopenia. Vaginal delivery was achieved wi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type I Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"type I Gaucher's disease"
] | null | [
"avascular necrosis of the right femoral head",
"altered bony pelvis",
"marked restriction of right hip abduction",
"prevented further deterioration",
"exaggerated flexion at the contralateral hip"
] | [
"Enzyme replacement therapy with alglucerase",
"Vaginal delivery"
] | null | [
"improved thrombocytopenia"
] | null |
gaucher:11169926 | Adult Gaucher disease in association with primary malignant bone tumors. | [
"Malignant neoplastic disorders are more common in patients with Gaucher disease (GD) than in the general population. Very few cases of primary malignant bone tumors in association with GD have been reported to date. Thus, the recommendations for an adequate therapy are often based on limited professional experienc... | [
"<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 Malignant neoplastic disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Malignant neoplastic disorders",
"Gaucher disease (GD)",
"primary malignant bone tumors",
"GD",
"leiomyosarcoma of the bone",
"GD",
"GD",
"anaplastic large cell non-Hodgkin lymphoma",
"GD",
"primary malignant bone tumor",
"GD",
"various malignancies",
"leiomyosarcoma of the bone",
"anapla... | null | [
"localized osseous manifestation",
"destructive osteolytic lesion",
"lung metastases",
"died",
"died of disease or hemorrhagic complications of GD",
"painful lytic lesions"
] | [
"chemotherapy",
"enzyme therapy",
"the chemotherapy",
"preoperative radiotherapy",
"hemipelvectomy",
"chemotherapy and radiotherapy",
"enzyme therapy"
] | null | null | [
"poor recovery of the bone marrow that necessitated withdrawal of aggressive chemotherapy",
"spite of local control",
"continuously free of disease",
"free of disease"
] |
gaucher:11154983 | Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications. | [
"As Gaucher disease is an autosomal recessive disorder, most patients are either homozygotes or compound heterozygotes for glucocerebrosidase mutations. We have encountered a patient with three mutations, two c.1226A-->G (1226G, N370S) and one c.1448 T-->C (1448C, L444P). This was shown to be due to a gene conversi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">As \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",
"attack of infectious mononucleosis",
"Gaucher disease"
] | [
"autosomal recessive disorder",
"homozygotes or compound heterozygotes for glucocerebrosidase mutations",
"three mutations, two c.1226A-->G (1226G, N370S) and one c.1448 T-->C (1448C, L444P)",
"gene conversion event in which the sequence of the glucocerebrosidase pseudogene that includes the 1448C mutation ha... | [
"relatively mild disease"
] | null | null | null | null |
gaucher:11148530 | A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. | [
"We report a new variant type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, gastroesophageal reflux, and fibrous thickening of splenic and hepatic capsules. This patient had 1 D409H allele. He differed from other reported cases with a 1342G to C (D409H) homozygous mutation (... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a new \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n variant type of Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"variant type of Gaucher's disease"
] | [
"1 D409H allele",
"1342G to C (D409H) homozygous mutation"
] | [
"hydrocephalus",
"corneal opacities",
"deformed toes",
"gastroesophageal reflux",
"fibrous thickening of splenic and hepatic capsules",
"massive hepatosplenomegaly with fibrous thickening of spleen and liver capsules",
"improvement of visceral and hematologic abnormalities"
] | [
"Enzyme replacement therapy was given for 4 years"
] | null | null | [
"no cardiac involvement",
"no neurologic improvement"
] |
gaucher:11131925 | Coincidence of Gaucher's disease due to a 1226G/1448C mutation and of an immunoglobulin G lambda multiple myeloma with Bence-Jones proteinuria. | [
"We report about a 58-year-old female with coexisting type-I Gaucher's disease (GD) and multiple myeloma (MM). The diagnosis of GD was made in early childhood by means of bone marrow biopsy and was recently confirmed by analysis of the patient's genomic DNA for the underlying glucocerebrosidase mutations and the id... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report about 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 58-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"coexisting type-I Gaucher's disease (GD) and multiple myeloma (MM)",
"GD",
"plasma cell dyscrasia",
"GD associated with acquired MM",
"IgG myeloma",
"MM"
] | [
"identification of the 1226G/1448C genotype"
] | [
"massive splenomegaly",
"osteolytic lesions in skeletal X-rays"
] | [
"splenectomy"
] | null | [
"progressive anemia",
"thrombocytopenia",
"high serum protein and immunoglobulin (Ig) G levels",
"evidence of monoclonal gammopathy",
"lambda light-chain proteinuria"
] | [
"No further therapy was necessary for the next 34 years"
] |
gaucher:11112377 | A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease. | [
"Gaucher disease is the most prevalent sphingolipid storage disorder in humans caused by a recessively inherited deficiency of the enzyme glucocerebrosidase. More than 100 mutations have been described in the glucocerebrosidase gene causing Gaucher disease. Some of them are complex alleles with several mutations du... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"sphingolipid storage disorder",
"Gaucher disease",
"type I Gaucher disease"
] | [
"recessively inherited",
"glucocerebrosidase gene",
"complex alleles",
"several mutations",
"recombination events between the gene and its highly homologous pseudogene",
"recombinant alleles",
"crossover in the 3' end of the gene, beyond exon 8",
"new complex allele",
"crossover between the gene and... | null | null | null | [
"deficiency of the enzyme glucocerebrosidase"
] | null |
gaucher:11104205 | Niemann-Pick disease type C: two cases and an update. | [
"We describe two patients with juvenile-onset Niemann-Pick disease type C (NPC) to illustrate the variable neurologic features of this condition. One presented with hypersplenism at age 10 and was misdiagnosed with Gaucher disease. He developed complex partial seizures in his teens but remained otherwise neurologic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe two 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 juvenile-onset Niemann-Pick disease type C (NPC)\n <span style=\"font-size: ... | [
"juvenile-onset Niemann-Pick disease type C (NPC)",
"axonal sensorimotor polyneuropathy",
"NPC",
"NPC"
] | null | [
"complex partial seizures",
"mild dementia",
"dysarthria",
"vertical supranuclear ophthalmoplegia",
"cerebellar ataxia",
"rapidly progressive dystonia",
"mild hepatosplenomegaly",
"vertical supranuclear ophthalmoplegia",
"severe behavioral disorder",
"dementia"
] | null | null | [
"hypersplenism",
"deficient cholesterol esterification"
] | [
"misdiagnosed with Gaucher disease",
"remained otherwise neurologically asymptomatic"
] |
gaucher:11050629 | Mutation analysis of Gaucher disease using dot-blood samples on FTA filter paper. | [
"FTA((R)) filter papers were used as an effective means of blood cell collection, genomic DNA processing, and delivery. Minute blood samples (<1 microL) were collected onto the filters via a simple lateral prick to the patient's finger, circumventing the need for intravenous blood puncture. Collected samples, which... | [
"<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 FTA((R)) filter papers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Gaucher disease",
"Gaucher disease",
"Gaucher disease",
"Gaucher disease"
] | [
"N370S mutation",
"L444P mutation",
"N370S mutation",
"N370S mutation",
"N370S mutation",
"was linked to the Pv1.1(-) polymorphism"
] | null | [
"FTA((R)) filter papers"
] | [
"Canadian",
"Chinese",
"Jewish",
"non-Jewish",
"Chinese",
"Asian descent",
"Chinese",
"Jewish"
] | null | null |
gaucher:11044944 | Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance. | [
"Gaucher's disease type I is the most prevalent lysosomal storage disorder caused by an autosomal-recessive inherited deficiency of glucocerebrosidase activity with secondary accumulation of glucocerebrosides within the lysosomes of macrophages. The storage disorder produces a multisystem disease characterized by p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease type I\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Gaucher's disease type I",
"lysosomal storage disorder",
"storage disorder",
"multisystem disease",
"Gaucher's disease",
"Gaucher's disease"
] | [
"autosomal-recessive inherited"
] | [
"progressive visceral enlargement",
"Skeletal disease"
] | null | null | [
"deficiency of glucocerebrosidase activity"
] | null |
gaucher:11042032 | Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling. | [
"Gaucher disease (GD) results from deleterious mutations in the glucocerebrosidase gene. The relatively high frequency of some of these, especially at cDNA nucleotide 1226G (N370S) and at cDNA nucleotide 1448C (L444P), has led to the development of rapid screening techniques that can sometimes be misleading. In thi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"type 1 Gaucher disease",
"GD",
"type 1",
"GD"
] | [
"deleterious mutations in the glucocerebrosidase gene",
"cDNA nucleotide 1226G (N370S) and at cDNA nucleotide 1448C (L444P)",
"novel rearrangement between the glucocerebrosidase gene and its pseudogene",
"homozygous for the common 1226G mutation",
"novel recombinant allele beginning in intron 6 and extendin... | null | [
"reliable genetic counseling"
] | [
"Italian",
"Italian",
"central Italy"
] | null | null |
gaucher:11041442 | Perinatal lethal form of Gaucher's disease presenting with hemosiderosis. | [
"A term infant with hydrops fetalis presented with hypotonia, massive splenomegaly, renal failure, and severe hyperferritinemia. Multiple organ failure, myoclonus, and opisthotonus ensued and she died at 15 days of age. High rounded forehead, large open fontanel, and a small recessed chin led to initial premortem d... | [
"<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 term infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hydrops fetalis",
"Zellweger syndrome",
"perinatal lethal form of Gaucher's disease (PLGD)"
] | null | [
"hypotonia",
"massive splenomegaly",
"renal failure",
"Multiple organ failure",
"myoclonus",
"opisthotonus",
"died",
"High rounded forehead",
"large open fontanel",
"small recessed chin",
"crossover features of Zellweger phenotype",
"rapid progression of splenomegaly"
] | null | null | [
"severe hyperferritinemia",
"deficiency of enzyme beta-glucocerebrosidase in white blood cells and in cultured fibroblasts",
"severe hyperferritinemia"
] | [
"plasma profile of long chain fatty acid was normal",
"absence of icthyosis"
] |
gaucher:11034870 | Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher's disease type 3a. | [
"Among three recognised clinical phenotypes, type 3a Gaucher's disease is characterised by mild to severe systemic disease, neurological manifestations and myoclonic seizures. We report the long term clinical and electrophysiological follow-up of a 27-year old man with a diagnosis of type 3a Gaucher's disease, whic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Among three recognised clinical phenotypes, \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 3a Gaucher's disease\n <span style=\"font-size: 0.8em; fo... | [
"type 3a Gaucher's disease",
"type 3a Gaucher's disease"
] | null | [
"mild to severe systemic disease",
"neurological manifestations",
"myoclonic seizures",
"seizure",
"generalised nonrhythmic paroxysmal rapid spikes with occipital predominance increased by photic stimulation",
"seizures increased from 3-4/year to 1-2",
"additional background slowing",
"specific patter... | null | null | [
"leukocyte glucocerebrosidase level measurement"
] | [
"neurological examination was normal throughout the follow-up period",
"normal background activity"
] |
gaucher:10950936 | Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I. | [
"Gaucher disease, the most common glycolipid storage disease, can be caused by a large variety of mutations. We report here the identification and characterization of a novel mutation in the human glucocerebrosidase gene, IVS 8 (-11delC) (-14T>A), in two siblings with Gaucher disease type I which occurs within the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"glycolipid storage disease"
] | [
"novel mutation in the human glucocerebrosidase gene, IVS 8 (-11delC) (-14T>A),",
"within the 3' end of intron 8",
"IVS 8 (-11delC) (-14T>A) sequence alteration",
"splicing of the proximal exon 9",
"the IVS 8 (-11delC) (-14T>A) mutation",
"mRNA with an 11-bp insertion located between the end of exon 8 and... | null | null | null | null | [
"No mRNA species carrying the IVS 8 (-11delC) (-14T>A) mutation"
] |
gaucher:10928672 | Macular changes in type I Gaucher's disease. | [
"The authors illustrate the spectrum of Gaucher's disease involving the eye in the case of a 51-year-old man suffering from Type I Gaucher's disease who presented with unusual macular changes. This is the first report of chronic adult non-neuronopathic disease (Type I) with a plaque-like mass at the fovea. Our hypo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors illustrate the spectrum 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's disease involving the eye\n <span style=\"font-size: 0.8e... | [
"Gaucher's disease involving the eye",
"Type I Gaucher's disease",
"chronic adult non-neuronopathic disease (Type I)"
] | null | [
"unusual macular changes",
"plaque-like mass at the fovea",
"lesion at the fovea"
] | null | null | null | null |
gaucher:10833378 | Identification of Gaucher cells in the chorionic villi associated with recurrent hydrops fetalis. | [
"Recurrent non-immune hydrops fetalis has rarely been reported. In order to detect the risk of recurrence in a subsequent pregnancy, one should carefully consider the possibility of an inborn error of metabolism. In such cases, placental examination may be useful in detecting such metabolic storage disorders in the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Recurrent non-immune hydrops fetalis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Recurrent non-immune hydrops fetalis",
"metabolic storage disorders",
"recurrent hydrops",
"Gaucher's disease"
] | [
"inborn error of metabolism"
] | null | null | null | [
"beta-glucocerebrosidase activity"
] | null |
gaucher:10823610 | Surgical management of spinal involvement in children and adolescents with Gaucher's disease. | [
"Gaucher's disease is an uncommon hereditary glycolipid storage disorder characterized by the accumulation of glucocerebroside in the lysosomes of macrophages of the reticuloendothelial system. Skeletal manifestations are variable in severity and typically involve the long bones. Vertebral involvement is less well ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"glycolipid storage disorder",
"Gaucher's disease",
"Gaucher's disease"
] | [
"uncommon hereditary"
] | [
"Skeletal manifestations",
"involve the long bones",
"Vertebral involvement",
"kyphotic deformity associated with neurologic compromise",
"spinal cord compromise at the apex of the kyphotic deformity",
"retropulsion of involved bone",
"severe deformity",
"neurologic compromise"
] | [
"surgical management of spinal involvement",
"kyphotic deformity",
"anterior spinal release with fusion",
"posterior spinal fusion with segmental instrumentation",
"kyphotic deformity",
"anterior decompression",
"early intervention"
] | null | null | null |
gaucher:10823453 | Gaucher disease of the spleen: CT and MR findings. | [
"We present a 26-year-old male patient with Gaucher disease who presented with epigastric pain and a palpable mass in the left abdomen. Ultrasound, abdominal computed tomography, and magnetic resonance imaging showed massive splenomegaly with multiple splenic nodules up to 7 cm in diameter. Splenic nodules should b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 26-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Gaucher disease",
"Splenic nodules",
"hematologic malignancies",
"Gaucher disease"
] | null | [
"epigastric pain",
"palpable mass in the left abdomen",
"massive splenomegaly",
"multiple splenic nodules up to 7 cm in diameter",
"splenic masses"
] | null | null | null | null |
gaucher:10814997 | Life-threatening splenic hemorrhage in two patients with Gaucher disease. | [
"Massive splenomegaly is a frequent finding in patients with Gaucher disease, the most common of the sphingolipidoses. Even so, the risk for splenic rupture and intracapsular hemorrhage has not been emphasized due to the rarity of this occurrence and the fibrotic, rubbery consistency of splenic tissue in these pati... | [
"<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 Massive splenomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease",
"sphingolipidoses",
"type 1 Gaucher disease",
"Gaucher disease"
] | null | [
"Massive splenomegaly",
"splenic rupture",
"intracapsular hemorrhage",
"fibrotic, rubbery consistency of splenic tissue",
"life-threatening splenic bleeds",
"splenic hemorrhage"
] | [
"emergent splenectomies"
] | null | null | [
"not acutely diagnosed"
] |
gaucher:10792292 | Extraordinary bone involvement in a gaucher disease type I patient. | [
"We report on a 63-year-old patient with Gaucher disease type I who developed severe bone involvement with destructive lesions and huge soft tissue extension in both humeri that appeared to evolve slowly. The clinical course and histopathological findings in our patient suggested a progressive extraosseous extensio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 63-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Gaucher disease type I",
"untreated Gaucher disease"
] | null | [
"severe bone involvement",
"with destructive lesions",
"huge soft tissue extension in both humeri",
"impressive deformity",
"extraordinary bone involvement",
"skeletal complications"
] | null | null | null | null |
gaucher:10787452 | Massive hepatic fibrosis in Gaucher's disease: clinico-pathological and radiological features. | [
"Hepatomegaly is frequent in patients with type 1 Gaucher's disease and is associated with infiltration of the liver with pathological macrophages. Most patients suffer no significant clinical consequences, but a few develop portal hypertension which may progress to parenchymal liver failure. We describe four 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 Hepatomegaly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"type 1 Gaucher's disease",
"Gaucher's disease",
"severe Gaucher's disease",
"advanced liver disease",
"liver histology",
"liver disease"
] | null | [
"Hepatomegaly",
"portal hypertension",
"parenchymal liver failure",
"portal hypertension",
"multi-organ involvement",
"massive fibrosis",
"characteristic radiological appearances",
"rapidly fatal"
] | [
"splenectomy",
"enzyme replacement therapy with imiglucerase"
] | null | null | [
"no significant clinical consequences",
"without specific treatment"
] |
gaucher:10774238 | [An adult form of type-I. Gaucher's disease]. | [
"A young woman with no previous history of any diseases was admitted for further evaluation of a mild thrombocytopenia she has had for some months. No signs of bleeding have so far occurred. Physical examination was normal except for a moderately enlarged spleen. Routine investigations showed lower platelet count. ... | [
"<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 young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Gaucher's disease",
"adult form",
"type-1 Gaucher's disease"
] | null | [
"for some months",
"moderately enlarged spleen"
] | null | null | [
"mild thrombocytopenia she",
"lower platelet count",
"deficient lysosomal glucosylceramide-beta-D-glucosidase activity in peripheral blood leukocytes"
] | [
"with no previous history of any diseases",
"No signs of bleeding",
"Physical examination was normal",
"no laboratory evidence of disease conditions with autoimmune/inflammatory or hematologic origin",
"absence of neurologic involvement"
] |
gaucher:10756347 | Severe type II Gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses. | [
"Severe infantile Gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II Gaucher disease. This group of infants has little, if any, detectable beta-glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible for this phenotype... | [
"<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 Severe infantile Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Severe infantile Gaucher disease",
"Type II Gaucher disease"
] | null | [
"ichthyosis",
"death",
"succumbing",
"arthrogryposis",
"collodion membrane covering the skin",
"extensive loss of neurons in the anterior horns, brainstem, and cortex of the nervous system",
"arthrogryposis",
"neonatal death"
] | null | [
"Hispanic"
] | null | [
"little, if any, detectable beta-glucocerebrosidase activity",
"no detectable beta-glucocerebrosidase activity in tissue samples"
] |
gaucher:10740209 | Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects. | [
"We report on the early prenatal diagnosis of fetal Gaucher disease type 2 by ultrasound examination and beta-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose first sibling fetus had previously been affected with hydrops fetalis. These cases emphasize the importance of the patholog... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on the early prenatal diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n fetal Gaucher disease type 2\n <span style=\"font-size: 0.8em... | [
"fetal Gaucher disease type 2",
"hydrops fetalis",
"lysosomal storage disease"
] | null | [
"minimal and precocious echographic signs"
] | null | null | null | null |
gaucher:10734257 | Communicating hydrocephalus in a patient with Gaucher's disease type 3. | [
"The case of a 3-year-old male with type 3 Gaucher's disease, whose genotype for the beta-glucosidase gene was D409H/unknown mutation, is presented. After the onset of visceral and neurologic signs during infancy, a radiologic investigation at 3 years of age revealed communicating hydrocephalus, an unusual complica... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 3-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"type 3 Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | [
"genotype for the beta-glucosidase gene was D409H/unknown mutation"
] | [
"visceral and neurologic signs",
"communicating hydrocephalus",
"clinical and radiologic improvement"
] | [
"ventriculoperitoneal shunt operation"
] | null | null | null |
gaucher:10728119 | Avascular necrosis. A case history and literature review. | [
"We describe a patient with avascular necrosis in both shoulders. Confirmatory testing in making the diagnosis included plain radiography, bone scan, and magnetic resonance imaging. The pathogenesis and staging of the disease by radiography are presented in the article. Treatment options include a conservative regi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n avascular necrosis in both shoulders\n <span style=\"font-size: 0.8em; font-wei... | [
"sickle cell disease",
"Gaucher disease",
"lymphoma",
"dysbaric conditions",
"avascular necrosis"
] | null | [
"avascular necrosis in both shoulders",
"trauma"
] | [
"conservative regimen of shoulder range of motion exercises",
"nonsteroidal anti-inflammatory agents",
"surgery (arthroplasty or core decompression)",
"long-term corticosteroid use",
"smoking",
"alcohol consumption",
"chemotherapy"
] | null | null | null |
gaucher:10714667 | Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. | [
"To describe a case with a new genetic variant of type 3 Gaucher disease presenting with stimulus-sensitive and action myoclonus in the presence of selective dentate abnormalities.",
"Clinical, pathologic, and molecular genetic studies.",
"Medical school departments.",
"A 6-year-old girl with type 3 Gaucher d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe a case with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n new genetic variant of type 3 Gaucher disease\n <span style=\"font-size: 0.8em; ... | [
"type 3 Gaucher disease"
] | [
"new genetic variant of type 3 Gaucher disease",
"2 mutant alleles: one with a V394L mutation and the other with the lesion RecTL (D409H + L444P + A456P + V460V), which resulted from a recombination event, with the pseudogene located 16 kilobases downstream from the structural gene"
] | [
"stimulus-sensitive and action myoclonus",
"selective dentate abnormalities",
"progressively crippling generalized stimulus-sensitive and action myoclonus",
"selective degeneration of the cerebellar dentate nucleus and dentatorubrothalamic pathway",
"restricted abnormalities",
"myoclonus",
"cerebellar d... | null | null | null | [
"did not show cortical activity associated with the myoclonus",
"essentially complete lack of storage in the brain"
] |
gaucher:10711256 | Pseudo-Gaucher cells in myelodysplasia. | [
"A case of myelodysplastic syndrome is reported, in which the bone marrow contained many cells with the typical light microscopic morphology of Gaucher cells. In the absence of any evidence of inherited Gaucher's disease, these cells are considered to be pseudo-Gaucher cells, which have been described previously in... | [
"<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 myelodysplastic syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"myelodysplastic syndrome",
"haematological diseases",
"myelodysplastic syndrome"
] | null | null | null | null | null | [
"absence of any evidence of inherited Gaucher's disease"
] |
gaucher:10679038 | Novel point mutation (W184R) in neonatal type 2 Gaucher disease. | [
"Gaucher disease is the most prevalent inherited sphingolipidosis and results from deficient glucocerebrosidase activity. Three clinical forms of Gaucher disease have been described: type 1, or non-neuronopathic; type 2, or acute neuronopathic; and type 3, or subacute neuronopathic. We have identified a novel mutat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"Gaucher disease",
"type 1, or non-neuronopathic",
"type 2, or acute neuronopathic",
"type 3, or subacute neuronopathic",
"type 2 Gaucher disease"
] | [
"inherited sphingolipidosis",
"novel mutation",
"heterozygous T --> C transition mutation in exon 6, cDNA nucleotide position 667, results in the substitution of tryptophan by arginine at amino acid residue 184 (W184R) of glucocerebrosidase",
"Hinf1",
"second mutation identified in the other glucocerebrosid... | [
"died",
"died"
] | null | [
"Russian-British descent"
] | [
"deficient glucocerebrosidase activity"
] | [
"little or no detectable glucocerebrosidase activity"
] |
gaucher:10685993 | Type 2 Gaucher disease: the collodion baby phenotype revisited. | [
"The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder and enzyme defici... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The 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-height: 1; bo... | [
"Gaucher disease",
"type 2 Gaucher disease",
"type 2 Gaucher disease",
"Gaucher disease"
] | [
"inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45)",
"null allele type 2 Gaucher",
"mutant glucocerebrosidase alleles include two novel mutations (S196P and R131L) and two rare point mutations (R120W and R257Q)",
"alleles resulting from recombination with the nearby glucocerebrosidase pseudog... | [
"congenital ichthyosis",
"ichthyotic skin",
"skin disorder",
"collodion baby phenotype",
"congenital ichthyosis"
] | null | null | [
"enzyme deficiency"
] | null |
gaucher:10667678 | Metaphyseal undertubulation in gaucher disease: resolution at MRI in a patient undergoing enzyme replacement therapy. | [
"Gaucher disease is a sphingolipid storage disorder that results in the accumulation of Gaucher cells within the reticuloendothelial system. The life span can be near normal in the most common form. Our case illustrates the resolution of the skeletal findings in Gaucher disease following enzyme replacement therapy.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"sphingolipid storage disorder",
"Gaucher disease"
] | null | [
"resolution of the skeletal findings",
"clinical improvement"
] | [
"enzyme replacement therapy"
] | null | null | null |
gaucher:10663584 | Type I gaucher disease: extraosseous extension of skeletal disease. | [
"To investigate the frequency and morphology of extraosseous extension in patients with Gaucher disease type I.",
"MRI examinations of the lower extremities were analyzed in 70 patients with Gaucher disease type I. Additionally, the thoracic spine and the midface were investigated on MRI in two patients.",
"Fou... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To investigate the frequency and morphology 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 extraosseous extension\n <span style=\"font-size: 0.8em; fo... | [
"Gaucher disease type I",
"Gaucher bone disease",
"Gaucher disease"
] | null | [
"extraosseous extension",
"severe skeletal involvement",
"destruction or protrusion of the cortex with extraosseous extension into soft tissues",
"multiple paravertebral masses with localized destruction of the cortex were apparent in the thoracic spine",
"cortical destruction with extraosseous tissue exten... | null | null | null | null |
gaucher:10663472 | MRI in acute neuropathic Gaucher's disease. | [
"We present the cranial MRI findings in a 6-month-old girl with biopsy-proven acute neuropathic Gaucher's disease, which include unilateral cerebral atrophy and dural thickening with contrast enhancement."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cranial MRI\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"biopsy-",
"acute neuropathic Gaucher's disease"
] | null | [
"unilateral cerebral atrophy",
"dural thickening with contrast enhancement"
] | null | null | null | null |
gaucher:10636167 | Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). | [
"The authors describe four siblings from consanguineous parents who presented with oculomotor deficit in early childhood characterized by impaired volitional horizontal saccades, compensatory lateral head thrust, and preservation of vertical movement. When about 10 years of age, heavily calcified aortic and mitral ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors describe four \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n siblings from consanguineous parents\n <span style=\"font-size: 0.8em; font-weig... | [
"Gaucher disease"
] | [
"homozygous for the D409H (1342G-->C) mutation",
"D409H mutation"
] | [
"oculomotor deficit",
"impaired volitional horizontal saccades",
"compensatory lateral head thrust",
"preservation of vertical movement",
"heavily calcified aortic and mitral valves"
] | [
"surgery"
] | null | [
"Fibroblast beta-glucocerebrosidase activity was markedly reduced"
] | null |
gaucher:10620102 | Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature. | [
"Chronic Gaucher disease [GD] in association with systemic AL amyloidosis is extremely rare. We describe a 46-year-old Greek male with chronic GD confirmed by low glucocerebroside activity in fibroblasts and N370S/L444P mutations at the cerebrosidase gene, who also had systemic AL amyloidosis diagnosed by bone marr... | [
"<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 Gaucher disease [GD]\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Chronic Gaucher disease [GD]",
"in association with systemic AL amyloidosis",
"chronic GD",
"systemic AL amyloidosis",
"amyloidosis",
"GD in association with AL amyloidosis"
] | [
"N370S/L444P mutations at the cerebrosidase gene"
] | [
"improved the clinical symptoms of amyloidosis",
"died",
"restrictive cardiac disease"
] | [
"Treatment with melphalan and prednizolon"
] | [
"Greek"
] | [
"low glucocerebroside activity in fibroblasts",
"serum monoclonal IgA-lambda",
"severe total proteinuria with monoclonal IgA-lambda",
"dramatically decreased both levels of serum M-IgA and proteinuria"
] | null |
gaucher:10602869 | Budd-Chiari syndrome caused by Gaucher's disease. | [
"We present a unique case of Budd-Chiari syndrome caused by Gaucher's disease. The diagnosis was based on Doppler sonography, magnetic resonance imaging, contrast-enhanced three-dimensional magnetic resonance angiography, standard venography, and venous pressure measurements and was confirmed histologically."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a unique 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 Budd-Chiari syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Budd-Chiari syndrome",
"Gaucher's disease"
] | null | null | null | null | null | null |
gaucher:10563256 | Immunohistochemistry applied to the study of bone marrow Gaucher's cells: a case report. | [
"Gaucher's disease is frequently associated with immunologic abnormalities, e.g. hypergammaglobulinemia, polyclonal gammopathy and benign monoclonal gammopathy. A patient with Gaucher's disease and a selective accumulation of IgM k in Gaucher's cells without serum monoclonal gammopathies is described. The selective... | [
"<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",
"benign monoclonal gammopathy",
"Gaucher's disease"
] | null | [
"immunologic abnormalities"
] | null | null | [
"hypergammaglobulinemia",
"polyclonal gammopathy"
] | [
"without serum monoclonal gammopathies"
] |
gaucher:10551400 | Hepatosplenomegalic lipidosis: what unless Gaucher? Adult cholesteryl ester storage disease (CESD) with anemia, mesenteric lipodystrophy, increased plasma chitotriosidase activity and a homozygous lysosomal acid lipase -1 exon 8 splice junction mutation. | [
"A 36-year-old woman was admitted for hepatosplenomegaly and anemia. Bone marrow cytology showed \"sea-blue histiocytes\", vacuolated macrophages and plasma cells. As primary liver disease, malignancy or hematologic disorders were excluded, and plasma chitotriosidase activity was increased 27-fold over control, the... | [
"<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 36-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"lysosomal storage disease",
"CESD",
"inherited lysosomal storage diseases",
"atypical forms of Gaucher disease"
] | [
"homozygous G-->A mutation at position -1 of the exon 8 splice donor site (E8SJM-allele) known for adult cholesteryl ester storage disease (CESD)"
] | [
"hepatosplenomegaly"
] | null | null | [
"anemia",
"plasma chitotriosidase activity was increased 27-fold over control",
"activity of lysosomal acid lipase (LAL) in fibroblast homogenates was decreased to 12% of control subjects"
] | [
"primary liver disease",
"malignancy or hematologic disorders were excluded",
"normal glucocerebrosidase and sphingomyelinase activity"
] |
gaucher:10531185 | Continuous intravenous epoprostenol therapy for pulmonary hypertension in Gaucher's disease. | [
"Gaucher's disease is a rare disorder characterized by a deficiency of lysosomal beta-glucosidase. Pulmonary hypertension, the etiology of which is unclear, has been reported to occur in association with Gaucher's disease. We report the use of continuous intravenous epoprostenol (prostacyclin), which has been used ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | [
"rare disorder"
] | [
"Pulmonary hypertension",
"pulmonary hypertension",
"pulmonary hypertension",
"chronic pulmonary hypertension"
] | [
"continuous intravenous epoprostenol (prostacyclin)",
"epoprostenol"
] | null | [
"deficiency of lysosomal beta-glucosidase"
] | null |
gaucher:10440752 | Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation). | [
"Gaucher's disease (GD) is caused by an inherited deficiency of acid beta-glucosidase with storage of glucosylceramides in the lysosomes of macrophages. This study identifies a G202R mutation in the acid beta-glucosidase gene in an infant with severe neuronopathic (type 2) GD and only slightly reduced acid beta-glu... | [
"<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)",
"severe neuronopathic (type 2) GD",
"GD",
"GD",
"GD"
] | [
"inherited deficiency of acid beta-glucosidase",
"G202R mutation in the acid beta-glucosidase gene"
] | null | null | null | [
"only slightly reduced acid beta-glucosidase activity"
] | [
"residual enzyme activity may indicate"
] |
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