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:8547152 | Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor. | [
"Type 2B von Willebrand disease (vWD) is characterized by an increased affinity of von Willebrand factor (vWF) for binding to platelet glycoprotein Ib (GpIb). Most type 2B candidate mutations are clustered in the 509-695 disulphide loop but three of them (H505D, L697V and A698V) are outside this loop. We confirm he... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Type 2B von Willebrand disease (vWD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Type 2B von Willebrand disease (vWD)"
] | [
"type 2B candidate mutations",
"clustered in the 509-695 disulphide loop",
"H505D, L697V and A698V)",
"A698V mutation",
"type 2B mutation",
"L697V and A698V type 2B mutations both induce the presence of a valine residue in the 694-708 sequence",
"substituting the other leucine and alanine residues of th... | null | null | null | [
"increased affinity of von Willebrand factor (vWF) for binding to platelet glycoprotein Ib (GpIb)",
"decreased ristocetin-induced GpIb binding",
"type 2B vWF for GpIb"
] | null |
gaucher:8542958 | Cytokine mobilization of peripheral blood stem cells in patients with Gaucher disease with a view to gene therapy. | [
"As clinical trials for gene therapy in Gaucher disease (GD) begin, questions regarding the biology of the hematopoietic stem cell in this disease remain unanswered. This study demonstrates the ability to mobilize and collect CD34+ cells in three patients with the disorder. Our RAC/FDA-approved clinical trial utili... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">As clinical trials for \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n gene therapy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Gaucher disease (GD)",
"GD",
"GD",
"genetic disorders"
] | null | null | [
"gene therapy",
"mobilize and collect CD34+ cells",
"mobilized peripheral blood stem cells (PBSC)",
"gene transfer",
"transduced with a retroviral vector carrying the glucocerebrosidase (GC) gene",
"cytokines in mobilizing PBSC",
"given granulocyte colony-stimulating factor (G-CSF) at a dose of 5 microg... | null | [
"activity corrected to at least normal levels",
"The CD34+ cells in all fractions",
"Thy-1, CD38",
"CD33",
"-fold increase",
"diminution in the percent of CD34+/Thy-1+ cells",
"achieve up to a 50-fold increase in the level of GC above deficient levels in the patients' CD34+ enriched cells when maintaine... | [
"without myelosuppressive therapy",
"myelosuppressive therapy"
] |
gaucher:8599361 | Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease. | [
"We describe 2 sibs who presented with ichthyotic skin at birth and subsequently developed neurologic manifestations of type 2 Gaucher disease. Type 2 Gaucher patients with and without ichthyosis manifest ultrastructural and biochemical abnormalities in the epidermis. The 2 patients described here clearly demonstra... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 2 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sibs\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"type 2 Gaucher disease",
"Type 2 Gaucher",
"type 2 Gaucher disease",
"Gaucher",
"Gaucher disease",
"congenital ichthyosis"
] | null | [
"ichthyotic skin",
"neurologic manifestations",
"epidermal involvement",
"neurologic symptoms",
"early skin abnormalities"
] | null | null | null | [
"without ichthyosis",
"scaling resolves spontaneously"
] |
gaucher:8547070 | Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D). | [
"Three novel point mutations were detected in the glucocerebrosidase gene of three unrelated Gaucher's disease patients by direct sequencing of PCR products. The first is a C to G change at position 4263 in the genomic sequence (exon 7) which results in a proline to arginine change at position 266 in the mature enz... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n novel point mutations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Gaucher's disease"
] | [
"novel point mutations",
"in the glucocerebrosidase gene",
"C to G change at position 4263 in the genomic sequence (exon 7) which results in a proline to arginine change at position 266 in the mature enzyme (P266R)",
"a G to C change at position 5276 in the genomic sequence (exon 8) which results in an aspart... | null | null | null | null | null |
gaucher:8607360 | Molecular diagnosis of Gaucher disease type II. | [
"Gaucher disease is a rare autosomal recessive lysosomal storage disorder in Chinese. A mutation at nucleotide 1448C (T-to-C) of the glucocerebrosidase gene is described in type 2 Gaucher disease. This mutation creates a Bcn I site in a polymerase chain reaction (PCR) amplified fragment. This technique was applied ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disorder",
"type 2 Gaucher disease",
"type 2 Gaucher disease",
"type 2 Gaucher disease"
] | [
"rare autosomal recessive",
"mutation at nucleotide 1448C (T-to-C) of the glucocerebrosidase gene",
"mutation creates a Bcn I site in a polymerase chain reaction (PCR) amplified fragment",
"homozygosity for 1448C mutation"
] | null | null | [
"Chinese",
"Chinese",
"Chinese"
] | null | null |
gaucher:8556817 | A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients. | [
"Mutation screening of the glucocerebrosidase gene by SSCP analysis revealed an abnormal pattern of exon 10 in two unrelated Italian Gaucher patients. Direct sequencing of the mutated samples identified a G6490-->A transition. The same mutation has been described before in a Japanese patient with Gaucher disease ty... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mutation screening of the glucocerebrosidase gene by SSCP analysis\n <span style=\"font-size: 0.8em; font-... | [
"Gaucher",
"Gaucher disease type III",
"type I",
"type II"
] | [
"abnormal pattern of exon 10",
"G6490-->A transition",
"second allele carried the N370S mutation",
"L444P mutation",
"G6490-->A substitution cancels a normal Msp I site",
"on the opposite chromosome the T6433-->C mutation (L444P) introduces a new Msp I site"
] | null | null | [
"Italian",
"Japanese"
] | null | null |
gaucher:8544197 | Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. | [
"Three sisters suffering from an unusual form of Gaucher's disease are described. These patients had cardiovascular abnormalities consisting of calcification of the ascending aorta and of the aortic and mitral valves. Neurological findings included ophthalmoplegia and saccadic eye movements in two patients, and ton... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sisters suffering from an unusual form of Gaucher's disease\n <span style=\"font-size: 0.8em; font-w... | null | [
"homozygous for the D409H mutation",
"D409H/D409H genotype"
] | [
"cardiovascular abnormalities",
"calcification of the ascending aorta and of the aortic and mitral valves",
"Neurological findings",
"ophthalmoplegia",
"saccadic eye movements",
"tonic-clonic seizures",
"died",
"severe cardiac involvement"
] | [
"undergone aortic valve replacement"
] | null | [
"liver beta-glucocerebrosidase activity was reduced to 4% and 11% of mean normal values"
] | null |
gaucher:7672788 | Pathological findings in Gaucher disease type 2 patients following enzyme therapy. | [
"The pathological outcomes following intravenous acid beta-glucosidase (alglucerase) infusions were compared in two siblings with Gaucher disease type 2, the acute neuronopathic variant. In case 1 enzyme infusions (four doses at 7 months) had no effect when severe progressive visceral and neuronopathic disease were... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The pathological outcomes following \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n intravenous acid beta-glucosidase (alglucerase) infusions\n <span styl... | [
"Gaucher disease type 2, the acute neuronopathic variant",
"lethal CNS disease",
"Gaucher disease type 2"
] | [
"prenatally diagnosed"
] | [
"severe progressive visceral and neuronopathic disease",
"Death from progressive disease",
"death",
"Development progressed satisfactorily",
"progressive brain stem involvement",
"Death",
"slowly progressive brain stem dysfunction",
"typical central nervous system (CNS) findings",
"unexpected long-t... | [
"intravenous acid beta-glucosidase (alglucerase) infusions",
"enzyme infusions (four doses at 7 months",
"Enzyme infusions",
"presymptomatically",
"enzyme therapy",
"presymptomatically",
"enzyme therapy"
] | null | null | [
"had no effect",
"gross motor and cognitive skills were nearly normal",
"The liver, spleen, and bone marrow, except that in the temporal bone",
"were normal",
"does not prevent"
] |
gaucher:7671465 | Transtrochanteric anterior rotational osteotomy for Gaucher's disease. A case report. | [
"Avascular necrosis of the femoral head is 1 of the skeletal manifestations of Gaucher's disease, for which hip arthroplasties are performed in many cases. Because many patients are young, total hip arthroplasty in this condition has been reported to result in aseptic loosening of the components soon after operatio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 of the femoral head\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Avascular necrosis of the femoral head",
"Gaucher's disease",
"avascular necrosis of the femoral head",
"Gaucher's disease"
] | null | [
"aseptic loosening of the components",
"significant femoral head collapse",
"acetabular deformity"
] | [
"hip arthroplasties",
"total hip arthroplasty",
"Osteotomy",
"transtrochanteric anterior rotational osteotomy",
"surgical treatment"
] | null | null | null |
gaucher:7644066 | Antisulfatide antibody and neuropathy in a patient with Gaucher's disease. | [
"We report the presence of antisulfatide antibodies in a patient with type I Gaucher's disease and peripheral neuropathy. The association of Gaucher's disease with hypergammaglobulinemia and monoclonal gammopathy is well documented whereas its association with peripheral neuropathy is rare. We discuss whether antib... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n presence of antisulfatide antibodies\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"type I Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"peripheral neuropathy",
"peripheral neuropathy"
] | null | null | [
"presence of antisulfatide antibodies",
"hypergammaglobulinemia",
"monoclonal gammopathy",
"antibodies directed against the sulfatide antigen"
] | null |
gaucher:7741134 | New variant of type II von Willebrand's disease with structural abnormality of plasma von Willebrand factor in a patient with very mild bleeding history. | [
"A new variant of von Willebrand's disease has been discovered in 2 members of a Macedonian family of 6. The proband, an 8-year-old boy, showed a prolonged bleeding episode on 1 occasion. Ristocetin-induced platelet aggregation and bleeding time were normal. In plasma, ristocetin cofactor activity (RCo) and von Wil... | [
"<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 new variant of von Willebrand's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"new variant of von Willebrand's disease",
"type II variants",
"type 2A-Bern"
] | [
"Heredity seems to be autosomal-dominant"
] | [
"prolonged bleeding episode",
"satellite bands close to the central band were more intense, and more distant ones were fainter",
"The central band of the fastest-moving multimer was markedly intensified",
"mobility of the whole quintuplet was slightly reduced"
] | null | [
"Macedonian"
] | [
"In plasma, ristocetin cofactor activity (RCo) and von Willebrand factor (vWf) antigen were reduced to the same clearly low level",
"determination of vWf antigen of platelets resulted in borderline values",
"RCo was clearly reduced",
"absence of the largest multimers in plasma vWf",
"slight reduction in pla... | [
"Ristocetin-induced platelet aggregation and bleeding time were normal",
"No mutation was found in exon 28 of the vWf gene"
] |
gaucher:7773882 | Intrahepatic, extramedullary hematopoiesis mimicking hemangioma on technetium-99m red blood cell SPECT examination. | [
"Cavernous hemangiomas are the most common lesion of the liver. Because of the risk of hemorrhage inherent in percutaneous biopsy of such lesions, noninterventional modalities (such as CT, ultrasound, MRI and Technetium-99m red blood cell imaging) have been utilized for differentiating them from other lesions. 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 Cavernous hemangiomas\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Cavernous hemangiomas",
"liver",
"hepatocellular carcinoma",
"hepatic angiosarcoma",
"colorectal carcinoma",
"Gaucher's disease"
] | null | [
"hemorrhage",
"hepatic metastases",
"appearance identical to hemangioma",
"focal region of intrahepatic extramedullary hematopoiesis",
"identical to that of hemangioma"
] | null | null | null | null |
gaucher:7549445 | Morphological and biochemical assessment of the cornea in a Gaucher disease carrier with keratoconus. | [
"Ocular abnormalities such as corneal opacities and some specific alterations in ocular movements have been described in the neuropathic forms of Gaucher disease. This study was designed to correlate the clinical, morphological and biochemical findings in the corneal button obtained after keratoplasty in a Gaucher ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ocular abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"neuropathic forms",
"Gaucher disease",
"Gaucher disease",
"keratoconus",
"lipid metabolism disorders",
"Gaucher's disease"
] | null | [
"Ocular abnormalities",
"corneal opacities",
"specific alterations in ocular movements"
] | [
"keratoplasty"
] | null | [
"deficiency in beta-glucosidase activity"
] | null |
gaucher:8629143 | Lysosomal storage disorders in Thailand: the Siriraj experience. | [
"Lysosomal storage disorders are a heterogeneous group of biochemical genetic disorders; currently 40-50 are known. The clinical phenotype is determined by the tissue distribution of the storage material and degree of enzyme deficiency. The genetic transmission is mostly autosomal recessive. Lysosomal storage disor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Lysosomal storage disorders\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Lysosomal storage disorders",
"biochemical genetic disorders",
"Lysosomal storage disorders",
"Disorders of grey matter",
"gangliosidosis",
"disorders of white matter eg the leucodystrophy",
"Niemann-Pick disease",
"Gaucher disease",
"mucopolysaccharidosis",
"mucolipidoses",
"Lysosomal storage ... | [
"genetic transmission is mostly autosomal recessive"
] | [
"Primary involvement of the central nervous system",
"Primary involvement of the reticuloendothelial system with or without associated neuropathology",
"Multisystem involvement",
"skeletal manifestations"
] | [
"Genetic counseling",
"prenatal diagnosis"
] | null | [
"enzyme deficiency"
] | [
"without significant somatic or skeletal pathology"
] |
gaucher:8588848 | Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency. | [
"We report a 12-year-old girl with an unusual phenotype of Gaucher disease type 3. Liver glucocerebrosidase activity was 20% of the normal. In addition to common manifestations such as hepatomegaly, she showed primary communicating hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, and clinodac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 12-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Gaucher disease type 3",
"Gaucher disease"
] | null | [
"hepatomegaly",
"primary communicating hydrocephalus",
"corneal opacities",
"deafness",
"left ventricle hypertrophy",
"clinodactyly of hands and feet",
"cardiomyopathy",
"corneal opacities"
] | null | null | [
"Liver glucocerebrosidase activity was 20% of the normal"
] | null |
gaucher:7655857 | Five new Gaucher disease mutations. | [
"DNA from 17 individuals with 20 unidentified alleles was subjected to single-stranded conformation polymorphism analysis and/or sequencing and 5 previously undescribed mutations have been identified: 245T, 259T, 635G, 914C del, and IVS10(+2). Two of these mutations, 914C del and IVS10(+2), are null, or \"lethal\" ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">DNA from 17 individuals with 20 unidentified alleles was subjected to \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n single-stranded conformation polymorphi... | [
"type I disease"
] | [
"245T, 259T, 635G, 914C del, and IVS10(+2)",
"Two of these mutations, 914C del and IVS10(+2), are null, or \"lethal\" mutations",
"rare 1448G mutation",
"1448C mutation",
"1448C mutation"
] | null | null | null | null | null |
gaucher:7644316 | Pulmonary Gaucher's disease: high-resolution computed tomographic features. | [
"CT findings in pulmonary Gaucher's disease have not been previously reported. Chest radiograph of a patient with pulmonary involvement in type I Gaucher's disease proven by biopsy showed linear and reticulo-nodular opacities. High-resolution CT demonstrated thickening of the interlobular septa and between four and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n CT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical-al... | [
"pulmonary Gaucher's disease",
"type I Gaucher's disease"
] | null | [
"pulmonary involvement",
"linear and reticulo-nodular opacities",
"thickening of the interlobular septa"
] | null | null | null | null |
gaucher:7619640 | Gaucher disease--the orthopaedic aspect. Report of seven cases. | [
"Seven patients with Gaucher type 1 disease are presented: five female and two male. The orthopaedic problems encountered were: avascular necrosis of both femoral heads in two girls, bilateral bone infarctions of the femurs in all three girls, complicated by staphylococcal osteomyelitis of the right femur in one gi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Seven 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 type 1 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Gaucher type 1 disease",
"osteonecrosis of the humeral head",
"osteonecrosis of the femoral heads"
] | null | [
"avascular necrosis of both femoral heads",
"bilateral bone infarctions of the femurs",
"staphylococcal osteomyelitis of the right femur",
"pathological fractures of both femurs",
"osteonecrosis of both humeral heads",
"osteonecrosis of the femoral heads",
"pathological fracture of the fourth lumbar ver... | [
"treated with a total shoulder arthroplasty",
"total hip arthroplasties"
] | null | null | null |
gaucher:7491212 | Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy. | [
"Although rarely they are a normal variant in children, significant defects in the medial aspect of the proximal humeral metaphysis occur in patients with Gaucher disease due to cortical infiltration and erosion of the periosteum by Gaucher cells. Such changes may lead to pathological fractures in Gaucher patients.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although rarely they are a normal variant in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Gaucher disease",
"Gaucher",
"type-1 Gaucher disease"
] | null | [
"significant defects in the medial aspect of the proximal humeral metaphysis",
"pathological fractures",
"crescentic erosions"
] | [
"enzyme replacement therapy"
] | null | null | null |
gaucher:7996366 | Adult and infantile Gaucher disease in one family: mutational studies and clinical update. | [
"Molecular analysis and clinical updates are provided on a previously reported mother and adult son with Gaucher disease; two other children died with acute neuronopathic (type 2) Gaucher disease. The mother and son have the identical genotype (370/444) but very different clinical manifestations. These findings ill... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Molecular analysis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"acute neuronopathic (type 2) Gaucher disease",
"Gaucher disease"
] | null | null | [
"counseling"
] | null | null | null |
gaucher:7877032 | Heterotopic splenic autotransplantation for splenomegaly secondary to Gaucher's disease--a case of siblings. | [
"The authors report on siblings with Gaucher's disease who underwent heterotopic splenic autotransplantation for splenomegaly. The efficacy of this treatment is discussed."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors 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 siblings\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Gaucher's disease",
"splenomegaly"
] | null | null | [
"heterotopic splenic autotransplantation"
] | null | null | null |
gaucher:7829657 | Progression of bone disease without deterioration of hematological parameters in a child with Gaucher disease during low-dose glucocerebrosidase therapy. | [
"Gaucher disease is the most prevalent lysosomal storage disease. Although the efficacy of the macrophage-targeted human placental glucocerebrosidase is well known, it is still difficult to develop definitive guidelines regarding the appropriate therapy schedule. We describe an 8-year-old Japanese boy with Gaucher ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disease",
"Gaucher disease"
] | null | [
"avascular necrosis of the right femoral head"
] | [
"macrophage-targeted human placental glucocerebrosidase",
"low-dose enzyme replacement therapy (12-13 IU/kg)",
"enzyme replacement therapy"
] | [
"Japanese"
] | null | [
"without deterioration of hematological variables",
"continuous normal hematological findings",
"progression of other aspects of Gaucher disease"
] |
gaucher:7857677 | Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? | [
"Gaucher disease (GD) is an inherited deficiency of beta-glucocerebrosidase (EC 3.1.2.45, gene symbol GBA). In type I GD, the CNS is not involved (nonneuronopathic), whereas in type II GD (acute neuronopathic) CNS involvement is early and rapidly progressive, while in type III GD (subacute neuronopathic) CNS involv... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 I GD",
"type II GD (acute neuronopathic)",
"type III GD (subacute neuronopathic)",
"type GD II",
"GD type II fetus"
] | [
"inherited",
"T6433C (L444P) substitution",
"as a single base-pair mutation",
"as part of a complex allele containing additional GBA nucleotide substitutions, G6468C (A456P) and G6482C (V460V), without (recNciI) or with (recTL) G5957C (D409H)",
"complex allele",
"recombination (crossover, fusion) of the s... | [
"CNS involvement is early and rapidly progressive",
"CNS involvement",
"slowly progressive",
"severe clinical phenotype",
"early neonatal lethal disease"
] | null | [
"Macedonian/Ashkenazi Jewish"
] | [
"deficiency of beta-glucocerebrosidase (EC 3.1.2.45",
"GBA)"
] | [
"the CNS is not involved (nonneuronopathic)"
] |
gaucher:7814809 | Glucocerebrosidase for treatment of Gaucher's disease: first German long-term results. | [
"Until recently, there was no specific therapy available for patients with Gaucher's disease. Since April 1991 a highly purified human placental preparation of glucocerebrosidase (Ceredase, Genzyme) has been available for clinical studies in Germany. Sequential deglycosylation of the native enzyme yields a mannose-... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Until recently, there was no specific therapy available for 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=... | [
"Gaucher's disease",
"type I Gaucher's disease",
"Gaucher's disease"
] | null | [
"excessive enlargement of the liver and spleen",
"skeletal complications",
"Multiple pathological fractures",
"Fatigue",
"asthenia",
"fatigue and asthenia were markedly reduced",
"significant reduction in the sizes of liver and spleen could be observed"
] | [
"highly purified human placental preparation of glucocerebrosidase (Ceredase",
"Sequential deglycosylation of the native enzyme",
"glucocerebrosidase therapy",
"several surgical procedures",
"dose of glucocerebrosidase",
"(20-50 U/kg given i.v. every 2nd week)",
"for 12-18 months",
"12 months",
"new... | [
"Germany",
"German"
] | [
"pancytopenia",
"blood counts of erythrocytes, leukocytes and platelets had completely normalized"
] | [
"No further fractures",
"Significant side-effects of glucocerebrosidase treatment did not occur"
] |
gaucher:8049421 | Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease. | [
"Genetic studies were performed in two unrelated patients with the IIC phenotype of von Willebrand disease (vWD) characterized by the increased concentration of the protomeric form of von Willebrand factor (vWF). In patient B, the sequencing of both exons 15 and 16 of the vWF gene showed two sequence alterations: a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Genetic studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"IIC phenotype of von Willebrand disease (vWD)",
"IIC vWD phenotypic expression"
] | [
"two sequence alterations: a 3-bp insertion in exon 15 resulting in the insertion of a Glycine at position 625 (625insGly) and a 2-bp deletion in exon 16 leading to a premature translational stop at codon 711 (711 ter), at the heterozygote state",
"homozygous for a single point mutation also localized in exon 15 ... | null | null | null | [
"increased concentration of the protomeric form of von Willebrand factor (vWF)",
"vWF multimerization",
"peculiar multimeric pattern of vWF"
] | null |
gaucher:7994251 | Bone marrow transplantation in Gaucher's disease: effect of mixed chimeric state. | [
"The effective dose and schedule of enzyme replacement therapy for Gaucher's disease have not been definitely established. We report a case of mixed chimeric state in an allogeneic BMT patient and followed her clinical and laboratory progress. The result shows that a low but sustained glucocerebrosidase level may p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The effective dose and schedule of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style=\"font-size: 0.8em; font-weigh... | [
"Gaucher's disease",
"mixed chimeric state",
"lysosomal disorder"
] | null | null | [
"enzyme replacement therapy",
"allogeneic BMT patient",
"symptomatic relief"
] | null | [
"low but sustained glucocerebrosidase level"
] | null |
gaucher:8042430 | Bronchoalveolar lavage in a girl with Gaucher's disease. A case report. | [
"A case of Gaucher's disease with pulmonary involvement occurred. Numerous Gaucher cells were seen in bronchoalveolar lavage (BAL) fluid on two occasions in a girl with Gaucher's disease and respiratory symptoms. The Gaucher cells resembled macrophages with eccentric, small, oval nuclei but were distinguished by th... | [
"<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 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"juvenile forms",
"types I and III)",
"Gaucher's disease"
] | null | [
"pulmonary involvement",
"respiratory symptoms",
"Severe pulmonary involvement",
"pulmonary involvement"
] | null | null | null | null |
gaucher:7916532 | DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. | [
"Gaucher disease is the most frequent lysosomal lipid storage disease. It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: type 1, non-neuronopathic; type 2, acute neuronopathic; and type 3, subacute n... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal lipid storage disease",
"Gaucher disease",
"type 1, non-neuronopathic",
"type 2, acute neuronopathic",
"type 3, subacute neuronopathic",
"Gaucher disease",
"type 1 Gaucher disease",
"type 1 Gaucher disease"
] | [
"transmitted as an autosomal recessive trait",
"uncommon mutation in nucleotide position 1604 (genomic DNA nucleotide position 6683)",
"is a G-->A transition in exon 11 that results in 496Arg-->496His of glucocerebrosidase",
"missense mutation is present in the heterozygous form",
"mutation in the other Gau... | null | null | [
"Jewish-Polish-Russian descent"
] | [
"deficient glucocerebrosidase activity"
] | [
"no neurological involvement"
] |
gaucher:8059249 | Extraosseous extension of Gaucher cell deposits mimicking malignancy. | [
"Two cases are described in which patients with type I Gaucher disease developed extraosseous soft tissue masses consisting of Gaucher cell deposits. In one instance the mass destroyed the posterior cortex of the left distal femur and protruded into the soft tissues. In the second case the lesion involved the proxi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two cases are described in which patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type I Gaucher disease\n <span style=\"font-size: 0.8em; fo... | [
"type I Gaucher disease",
"neoplastic disorder",
"lymphoproliferative disease",
"Gaucher disease"
] | null | [
"extraosseous soft tissue masses",
"mass destroyed the posterior cortex of the left distal femur and protruded into the soft tissues",
"lesion involved the proximal tibia and gradually extended into the soft tissues",
"lesions of benign etiology",
"mimic these aggressive processes",
"cortical destruction ... | null | null | null | null |
gaucher:8160756 | RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease. | [
"We describe 4 Jewish patients with type 1 Gaucher disease and the genotype N370S/recTL. They present either asymptomatic or mild Gaucher disease. RecTL is a complex allele that contains 4 single point mutations in the glucocerebrosidase gene: D409H, L444P, A456P, and V460V. Since patients who have the genotype N37... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 4 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Jewish\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"type 1 Gaucher disease",
"mild Gaucher disease",
"moderate to severe course of Gaucher disease",
"Gaucher disease"
] | [
"genotype N370S/recTL",
"genotype N370S/L444P",
"homozygous for the D409H or the L444P mutations",
"severe single base pair mutations",
"mild complex recTL allele"
] | [
"aggressive disease",
"neurological signs"
] | [
"early enzyme replacement therapy"
] | [
"Jewish"
] | null | [
"asymptomatic"
] |
gaucher:8162995 | Value of bronchoalveolar lavage in lipidoses with pulmonary involvement. | [
"Adult lipid storage disorders with pulmonary involvement are rare and usually diagnosed at autopsy. We report a patient with splenomegaly and reticulonodular pattern on lung computed tomography. Bronchoalveolar lavage was performed and revealed the presence of lipid-containing foamy cells, with the demonstration 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 Adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"lipid storage disorders",
"rare disorders",
"lipid storage disorders"
] | null | [
"pulmonary involvement",
"splenomegaly",
"reticulonodular pattern",
"pulmonary involvement"
] | null | null | null | null |
gaucher:8132832 | Acquired pseudo-pseudo Bernard-Soulier syndrome complicating Gaucher's disease. | [
"To investigate the abnormality in platelet function in two patients with type I Gaucher's disease causing a chronic bleeding tendency despite normalisation of the platelet count after spleen removal.",
"Routine laboratory methods were used to assess baseline coagulation. Platelet aggregometry was used to assess ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To investigate 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 abnormality in platelet function\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"type I Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease",
"pseudo-pseudo Bernard-Soulier syndrome"
] | null | [
"chronic bleeding tendency",
"prolonged skin bleeding time",
"abnormality has the features of Bernard-Soulier syndrome"
] | null | null | [
"abnormality in platelet function",
"agglutination of normal washed platelets",
"incubation in patient plasma",
"inhibitory activity did not lie in the IgG fraction of patient plasma",
"inhibition of ristocetin induced platelet agglutination"
] | [
"despite normalisation of the platelet count after spleen removal",
"failed to agglutinate to ristocetin",
"despite normal platelet surface glycoprotein (GP) Ib and plasma von Willebrand factor activity",
"normal plasma von Willebrand activity and platelet surface GP Ib concentrations",
"inhibitory activity... |
gaucher:8193463 | Aminohydroxypropylidene-biphosphonate in the treatment of bone lesions in a case of Gaucher's disease type 3. | [
"Gaucher disease is the most prevalent lysosomal storage disorder. It is characterized by an autosomal recessive inheritance of a deficiency of lysosomal acid glucocerebrosidase. Three clinical phenotypes are recognized: type 1 (non-neuronopathic), type 2 (acute neuronopathic), type 3 (subacute neuronopathic). Bone... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disorder",
"type 1 (non-neuronopathic)",
"type 2 (acute neuronopathic)",
"type 3 (subacute neuronopathic)",
"type 1 and type 3 Gaucher disease",
"type 3 Gaucher",
"Gaucher disease",
"Gaucher"
] | [
"autosomal recessive inheritance"
] | [
"Bone lesions",
"Skeletal involvement",
"neurological symptomatology",
"severe bone lesions (bilateral fracture of the femur heads, lytic process of the bone matrix of the femurs and distal flask deformity",
"kyphoskoliosis",
"chest deformity",
")",
"very severe bone lesions",
"normalization of bone... | [
"baby",
"constrained to a wheel-chair",
"use of (3-amino-1-hydroxypropylidene)-1,1-biphosphonate (APD)",
"periodic iv infusions of APD (10 mg every 3 weeks)",
"for a period of 20 months",
"enzyme replacement therapy (alglucerase) was commenced",
"APD treatment",
"9 months of alglucerase therapy",
"A... | null | [
"deficiency of lysosomal acid glucocerebrosidase",
"positive calcium balance"
] | [
"The urinary Ca/Cr ratio and TRP were consistently normal"
] |
gaucher:8171981 | Loosening of a noncemented porous-coated anatomic femoral component in Gaucher's disease. A case report and review of literature. | [
"There are few reports of experiences with hip arthroplasty in patients with Gaucher's disease. Review of the literature shows a high rate of loosening after any type of arthroplasty. The clinical, roentgenographic and histopathological findings of a porous-coated hip arthroplasty in Gaucher's disease necessitating... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are few reports of experiences 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 hip arthroplasty\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"loosening",
"loosening"
] | [
"hip arthroplasty",
"of arthroplasty",
"porous-coated hip arthroplasty",
"revision after 5 years"
] | null | null | null |
gaucher:8118463 | DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? | [
"The wide spectrum of clinical manifestations resulting from glucocerebrosidase deficiency complicates genetic counseling for Gaucher disease. The identification of mutations in the glucocerebrosidase gene has enabled studies of genotype-phenotype correlation. However, a genotypic analysis of 60 type 1 and type 3 G... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The wide spectrum of clinical manifestations resulting from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n glucocerebrosidase deficiency\n <span style=\"... | [
"Gaucher disease",
"type 1 and type 3 Gaucher",
"Gaucher",
"Gaucher disease"
] | [
"mutations in the glucocerebrosidase gene",
"5 most common Gaucher mutations, N370S, L444P, R463C, 84insG, and IVS2 + 1 G-->A"
] | [
"neurologic manifestations"
] | [
"genetic counseling"
] | null | [
"glucocerebrosidase deficiency"
] | null |
gaucher:7997130 | [Enzyme replacement therapy in type 1 Gaucher's disease]. | [
"Gaucher disease is a sphingolipid storage disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase (GC) and the consequent deposition of glucocerebrosides into the cells of the macrophagic system. Among the three types of clinical disease, type 1 leads to hepatosplenomegaly, hypersplenism and ske... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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",
"type 1",
"moderately severe type 1 Gaucher disease",
"type 1"
] | null | [
"hepatosplenomegaly",
"skeletal abnormalities",
"bone pain",
"osteopenia",
"fractures",
"hepatic volume decreased significantly",
"bony symptoms disappeared",
"episode of anaphylaxis that subsided rapidly",
"objective clinical improvement"
] | [
"commercially available GC, mannose terminated to be macrophage-targeted",
"GC was given by intravenous infusion (30 to 60 units per kilogram of body weight every two weeks) for 8 and 18 months",
"resumption",
"splenectomy"
] | null | [
"deficiency of the lysosomal enzyme glucocerebrosidase (GC)",
"hypersplenism",
"hemoglobin concentration increased",
"the serum acid phosphatase decreased",
"Antibodies anti-GC"
] | [
"uneventful",
"did not affect efficacy"
] |
gaucher:7981715 | Complex arylsulfatase A alleles causing metachromatic leukodystrophy. | [
"Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of a patient affected with late infantile metachromatic leukodystrophy revealed that the patient is a compound heterozygote of two alleles carrying two deleterious 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 Metachromatic leukodystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"lysosomal storage disorder",
"late infantile metachromatic leukodystrophy",
"lysosomal storage diseases",
"Fabry disease",
"Gaucher disease"
] | [
"compound heterozygote of two alleles carrying two deleterious mutation each",
"One allele bears a splice donor site mutation together with two polymorphisms and an additional missense mutation (Gly122 > Ser)",
"splice donor site mutation and the Gly122 > Ser substitution",
"other allele carries two missense ... | [
"Metachromatic leukodystrophy",
"metachromatic leukodystrophy"
] | null | null | [
"synthesized in almost normal amounts"
] | [
"expression of arylsulfatase A activity could not be detected"
] |
gaucher:7931818 | Genotype-phenotype pitfalls in Gaucher disease. | [
"Gaucher disease (GD), caused by inherited deficiency of beta-glucocerebrosidase (beta-Glc, EC 3.1.2.45), is classified type I if the CNS is not involved (non-neuronopathic), type II if CNS involvement is early and rapidly progressive (acute neuronopathic), and type III if CNS involvement occurs later and is slowly... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 I",
"type II",
"(acute neuronopathic)",
"type III",
"(subacute neuronopathic)",
"type I",
"type III",
"Type II disease",
"severe visceral GD",
"late-onset type III disease",
"type III",
"type I"
] | [
"inherited deficiency of beta-glucocerebrosidase (beta-Glc, EC 3.1.2.45)",
"homozygosity for the common A5841->G (N370S) mutation",
"homozygosity for the T6433->C (L444P) mutation",
"carry the T6433->C allele together with a complex allele derived in part from the downstream pseudogene by crossover or gene co... | [
"CNS involvement is early and rapidly progressive",
"CNS involvement occurs later and is slowly progressive",
"onset of neurological findings",
"neurological findings"
] | null | [
"Norbottnian",
"Caucasian",
"Norbottnian"
] | null | [
"the CNS is not involved (non-neuronopathic)",
"measurement of residual beta-Glc activity",
"initially classified as having GD type I"
] |
gaucher:7850079 | Gaucher's disease, type I (adult type), with massive involvement of the kidneys and lungs. | [
"A 33-year-old Japanese male, first diagnosed as having Gaucher's disease at the age of 3 years, died of renal and pulmonary failure. Autopsy findings disclosed the proliferation of Gaucher's cells in the liver, bone marrow, lymph nodes, kidneys and lungs. Electron-microscopical findings suggested that the Gaucher'... | [
"<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; ... | [
"Gaucher's disease"
] | null | [
"died",
"renal and pulmonary failure"
] | null | [
"Japanese"
] | null | null |
gaucher:7847042 | Gaucher's disease and pregnancy. | [
"For a long time, pregnancy has been discouraged for patients with Gaucher's disease. Because of the scarcity of complications found in the literature, the obstetrical attitude is favorable towards an authorization of pregnancy for patients with Gaucher's disease. We describe the evolution of pregnancy of a woman s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">For a long time, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pregnancy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Gaucher's disease",
"Gaucher's disease",
"pregnancy",
"Gaucher's disease type I"
] | null | null | [
"authorization of pregnancy",
"anesthesiological support"
] | null | null | [
"pregnancy"
] |
gaucher:7833951 | Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion. | [
"Two sisters with moderately severe Gaucher disease were diagnosed as having the usually relatively benign 1226G/1226G genotype by examination of DNA amplified from exon 9, where this mutation is located. Because of the discrepancy between the apparent genotype and the phenotype, we suspected that one of the allele... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sisters with moderately severe Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; li... | null | [
"usually relatively benign 1226G/1226G genotype",
"one of the alleles had not amplified",
"only about one-half of the polymerase chain reaction (PCR) amplification product of the glucocerebrosidase gene in this region was found",
"the entire coding region was deleted"
] | null | null | null | [
"band unique to the functional glucocerebrosidase gene had reduced intensity"
] | [
"the glucocerebrosidase pseudogene and of the adjacent liver pyruvate kinase (PKLR) gene",
"no abnormal bands were present after digestion with any restriction endonuclease"
] |
gaucher:8301495 | Fatal hemorrhage caused by disease progression after partial splenectomy for type III Gaucher's disease. | [
"An 18-month-old boy with Gaucher's disease, massive hepatosplenomegaly, and hypersplenism underwent partial (85%) splenectomy and recovered without complication. During the next 4 months, his residual splenic segment showed progressive enlargement from 2 to 6 cm below the left costal margin. By this time, genetic ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 18-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher's disease",
"central nervous system involvement (type III)",
"type III Gaucher's disease",
"subacute neuronopathic disease"
] | [
"genetic typing"
] | [
"massive hepatosplenomegaly",
"residual splenic segment showed progressive enlargement from 2 to 6 cm below the left costal margin",
"continued enlargement of the organ into the pelvis and across the abdominal midline by 7 1/2 months postoperatively",
"shock",
"massive intraabdominal hemorrhage was noted fr... | [
"partial (85%) splenectomy",
"Complete splenectomy",
"emergency surgery",
"attempted splenectomy",
"partial splenectomy",
"subtotal splenectomy"
] | null | [
"hypersplenism",
"hematocrit of 6%",
"platelet count of 18,000/mm3"
] | [
"without complication",
"A compatible donor was not available for bone marrow transplantation",
"was not recommended"
] |
gaucher:8256944 | Subtotal splenectomy for Gaucher's disease: a follow-up study. | [
"Three patients with Gaucher's disease who underwent partial splenectomy have been followed for 3, 7 3/4, and 8 1/2 years. All have had significant regrowth of the the splenic remnant and some recurrence of hypersplenism. A review of all previously reported cases also substantiates the recurrence of splenomegaly an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three 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: bold; line-height: 1;... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"significant regrowth of the the splenic remnant",
"recurrence of hypersplenism",
"recurrence of splenomegaly"
] | [
"partial splenectomy",
"enzyme replacement therapy (Ceredase)"
] | null | [
"hypersplenism"
] | null |
gaucher:8252992 | Gaucher's disease. An unusual cause of intrathoracic extramedullary hematopoiesis. | [
"A thoracic paravertebral mass in an asymptomatic woman with type 1 Gaucher's disease proved to be due to extramedullary hematopoiesis. This is, to our knowledge, the first case of intrathoracic extramedullary hematopoiesis reported with Gaucher's disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n thoracic paravertebral mass\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"type 1 Gaucher's disease",
"Gaucher's disease"
] | null | [
"thoracic paravertebral mass"
] | null | null | null | [
"asymptomatic"
] |
gaucher:8277582 | [Negative myoclonus]. | [
"Negative myoclonus is an involuntary movement produced by a short interruption of muscle contraction. In this paper, recent concepts, pathomechanisms and treatment in negative myoclonus are reviewed. Two patients with negative myoclonus are also presented. One is an 18-year-old girl with Gaucher disease, and the 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 Negative myoclonus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Gaucher disease",
"simple partial motor epilepsy"
] | null | [
"Negative myoclonus",
"involuntary movement produced by a short interruption of muscle contraction",
"negative myoclonus",
"negative myoclonus",
"Electrical silent period",
"negative myoclonus",
"giant responses",
"negative myoclonus",
"cortical abnormal excitability"
] | null | null | null | null |
gaucher:8370839 | MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. | [
"Vertebra plana and multiple platyspondyly are complications of aggressive Gaucher disease. Magnetic resonance imaging readily identifies vertebra plana and secondary spinal cord compression. We present a case of a 2-year-old boy with clinically aggressive Type 1 Gaucher disease in whom MRI showed partial reconstit... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Vertebra plana\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"aggressive Gaucher disease",
"vertebra plana",
"aggressive Type 1 Gaucher disease"
] | null | [
"Vertebra plana",
"multiple platyspondyly",
"secondary spinal cord compression",
"partial reconstitution of the height of a collapsed lumbar vertebral body"
] | [
"16 months of enzyme replacement therapy"
] | null | null | null |
gaucher:8370580 | Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease. | [
"Sphingolipid activator protein (SAP) deficiency, previously described in two sibs and shown to be caused by the absence of the common saposin precursor (prosaposin), was further characterized by biochemical lipid and enzyme studies and by ultrastructural analysis. The 20-week-old fetal sib had increased concentrat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Sphingolipid activator protein (SAP) deficiency\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Niemann-Pick disease type C",
"acute neuronopathic (type 2) Gaucher disease",
"Farber disease"
] | null | [
"died"
] | null | null | [
"Sphingolipid activator protein (SAP) deficiency",
"absence of the common saposin precursor (prosaposin)",
"beta-glucocerebrosidase and beta-galactocerebrosidase activities were clearly reduced",
"prosaposin-derived SAPs are not required for sphingomyelinase activity in vivo",
"SAPs in sphingolipid degradat... | [
"Phospholipids, however, were normal in the affected fetus",
"sphingomyelinase activities were normal",
"normal activity of the latter enzyme",
"almost normal tissue concentration of sphingomyelin in prosaposin deficiency"
] |
gaucher:8398656 | Gaucher's disease and mesangiocapillary glomerulonephritis in childhood--a coincidence? | [
"A 6-year-old boy, presenting with a nephritic syndrome, was diagnosed as suffering from Gaucher's disease (GD) and mesangiocapillary glomerulonephritis (MCGN). GD was suspected because of aseptic necrosis of the femoral heads on X-ray and later confirmed by bone marrow aspiration and a lack of glucocerebrosidase a... | [
"<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 6-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Gaucher's disease (GD)",
"mesangiocapillary glomerulonephritis (MCGN)",
"GD",
"MCGN",
"rare diseases",
"nephritis",
"GD"
] | null | [
"nephritic syndrome",
"aseptic necrosis of the femoral heads"
] | [
"prednisone, dipyridamole and aspirin"
] | null | [
"lack of glucocerebrosidase activity in white blood cells"
] | [
"A second biopsy was not performed"
] |
gaucher:8232786 | Enzyme replacement therapy of infantile Gaucher disease. | [
"We report our experience from enzyme infusion therapy in a girl with infantile (type 2) Gaucher disease. When treatment was started at 5.5 months of age, she already had severe neurological symptoms. After three months of treatment, the hematological parameters and blood glucosylceramide levels were normalized. Th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report our experience from \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 infusion therapy\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"infantile (type 2) Gaucher disease"
] | null | [
"severe neurological symptoms",
"spleen and liver sizes were reduced",
"neurological deterioration seemed to have stopped",
"lung function deteriorated",
"constant aspirations",
"severe neurological signs"
] | [
"enzyme infusion therapy",
"three months of treatment",
"Enzyme treatment was stopped after seven months",
"enzyme substitution therapy"
] | null | [
"the hematological parameters and blood glucosylceramide levels were normalized"
] | [
"no improvement of her existing neurological symptoms"
] |
gaucher:8229871 | Periosteal Gaucher-like cells in beta-thalassemia major. | [
"A 24-year-old Chinese woman who has undergone staged surgery for craniofacial deformity secondary to beta-thalassemia major is presented. Local clusters of Gaucher-like cells were found in the periosteum of the mandible. The histologic and ultrastructural features of these cells are described and the pathogenesis ... | [
"<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 24-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"beta-thalassemia major",
"thalassemic"
] | null | null | [
"staged surgery",
"craniofacial deformity"
] | [
"Chinese"
] | null | null |
gaucher:8478717 | Indium-111-leukocyte imaging in Gaucher's disease. | [
"A 29-yr-old man with Gaucher's disease and fever of unknown origin underwent 111In-labeled mixed autologous leukocyte scintigraphy. Although no focus of infection was identified, the resulting images were most unusual and were characterized by massive hepatomegaly, lack of central marrow activity and extensive lym... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 29-yr-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Gaucher's disease"
] | null | [
"fever of unknown origin",
"massive hepatomegaly",
"Hepatomegaly",
"lymph node findings"
] | null | null | null | [
"no focus of infection was identified",
"lack of central marrow activity",
"absent central marrow activity"
] |
gaucher:8469493 | Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings. | [
"Since 1988, three nonrelated fatal cases of congenital ichthyosis associated with Gaucher disease have been described in Australia.",
"We present a case of Gaucher disease with congenital ichthyosis and restrictive dermopathy and describe the associated prenatal sonographic findings and pathology of this new syn... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Since 1988, three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n nonrelated fatal\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"congenital ichthyosis associated with Gaucher disease",
"Gaucher disease",
"congenital ichthyosis",
"lipid storage disease"
] | null | [
"nonrelated fatal",
"congenital ichthyosis",
"restrictive dermopathy"
] | null | [
"Australia"
] | null | null |
gaucher:8340859 | Partial splenectomy in Gaucher's disease: follow-up report. | [
"This is a follow-up report of three children who had partial splenectomy and are suffering from Gaucher's disease. A few years following partial splenectomy in every patient, the remaining spleen enlarged and hypersplenism reappeared; partial splenectomy did not prevent bone destruction if it already existed befor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is a follow-up report of three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Gaucher's disease"
] | null | [
"remaining spleen enlarged",
"reappeared"
] | [
"partial splenectomy",
"partial splenectomy",
"partial splenectomy",
"Treatment with Ceredase parallel with partial splenectomy"
] | null | [
"hypersplenism"
] | [
"did not prevent bone destruction if it already existed before partial splenectomy"
] |
gaucher:8318347 | Liver scintigraphy in a patient with Gaucher disease. | [
"Liver scintigraphy including SPECT was performed in a patient with Gaucher disease and compared with other methods. Multiple photon-deficient areas in the liver and spleen were recognized, and in evaluating the reticuloendothelial system of the liver, liver SPECT image was superior to US, CT and MR images."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Liver scintigraphy including SPECT\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher disease"
] | null | null | null | null | null | null |
gaucher:8317468 | Correction of neutrophil chemotaxis defect in patients with Gaucher disease by low-dose enzyme replacement therapy. | [
"We have recently described a chemotactic defect in severely afflicted Gaucher disease patients. Two of the patients were treated with low-dose intravenous enzyme replacement (Ceredase). Marked improvement in their hematological status, organomegaly, and growth was observed. In addition, their chemotactic defect an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have recently described 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 chemotactic defect\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Gaucher disease"
] | null | [
"Marked improvement in their hematological status",
"organomegaly",
"and growth",
"tendency towards infections"
] | [
"low-dose intravenous enzyme replacement (Ceredase)"
] | null | [
"chemotactic defect",
"chemotactic defect"
] | null |
gaucher:8097903 | Gaucher disease: a heterogeneous clinical complex for which effective enzyme replacement has come of age. | [
"Gaucher disease, the most common form of lysosomal storage disease, is the result of autosomal recessive inheritance of a lysosomal enzyme glucocerebrosidase deficiency, which produces defective hydrolysis of glucosylceramide that accumulates in reticuloendothelial (tissue macrophage) cells. The current review foc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disease",
"Type 1 (the nonneuronopathic) or adult Gaucher disease"
] | [
"autosomal recessive inheritance"
] | [
"splenomegaly",
"hepatomegaly",
"bony lesions",
"clinical metabolic dysfunction"
] | [
"enzyme replacement therapy",
"splenectomy or cytokine therapy",
"replacement treatment",
"enzyme delivery"
] | null | [
"lysosomal enzyme glucocerebrosidase deficiency"
] | null |
gaucher:8465231 | Gaucher's disease associated with chronic lymphocytic leukemia. | [
"To date, only five cases of associated Gaucher's disease and chronic lymphocytic leukemia (CLL) have been reported in the world literature. The exact relationship of the two diseases to one another has been puzzling, and Gaucher's disease has been viewed as both a cause of and an epiphenomenon to chronic lymphocyt... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To date, only five 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 associated Gaucher's disease and chronic lymphocytic leukemia (CLL)\n <span st... | [
"associated Gaucher's disease and chronic lymphocytic leukemia (CLL)",
"Gaucher's disease",
"chronic lymphocytic leukemia"
] | null | null | null | null | null | null |
gaucher:8378659 | [A rare etiology of spinal cord compression: Gaucher disease]. | [
"Gaucher's disease is a sphingolipidosis transmitted as an autosomal trait. Bone lesions are frequent in type 1 of the disease (i.e. the adult type without neurological manifestation). We report the case of a 70-year old woman suffering from spinal lesions with vertebral collapse and spinal cord compression. Our di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"sphingolipidosis",
"type 1 of the disease"
] | [
"transmitted as an autosomal trait"
] | [
"Bone lesions",
"spinal lesions",
"vertebral collapse",
"spinal cord compression"
] | [
"replacement of the deficient enzyme by placental glucocerebrosidase"
] | null | null | [
"without neurological manifestation"
] |
gaucher:8461327 | Structure determination of glycosphingolipids of cultured human keratinocytes. | [
"From cultured human keratinocytes, seven glycolipid fractions were isolated by DEAE and silica-gel column chromatographies, and further by HPLC on a silica-gel column. By means of 1H-NMR spectroscopy, fast atom bombardment mass spectrometry and GLC-mass spectrometry, one fraction was determined to contain acylgluc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">From \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cultured human keratinocytes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | null | null | null | null | null | null | [
"did not differentiate into granular or horny cells"
] |
gaucher:8492967 | [Gaucher's disease: study of a family from Friuli]. | [
"Gaucher's disease is the most frequent of lysosomal storage diseases. In a family study two affected sisters of a type I patient were identified. Two of them underwent splenectomy, so reaching hematological normalization."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"lysosomal storage diseases"
] | null | null | [
"splenectomy"
] | null | [
"hematological normalization"
] | null |
gaucher:8475432 | Spinal involvement in children and adolescents with Gaucher disease. | [
"Nineteen patients with type I Gaucher disease with spinal involvement first diagnosed during childhood, were followed for 2 to 24 years (average 9 years), and their clinical and radiologic history reviewed. Patients presented with three types of pain: mild pain that was defined as nonspecific, severe pain due to b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Nineteen patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type I Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"type I Gaucher disease"
] | null | [
"spinal involvement",
"pain",
"mild pain",
"severe pain due to bone crisis",
"pain associated with vertebral collapse",
"Collapse of vertebra occurred gradually anywhere along the thoraco-lumbar spine",
"more than one vertebra was involved",
"rectangular collapse",
"central vertebra collapse",
"an... | null | null | null | null |
gaucher:8349190 | Gaucher's disease associated with monoclonal gammapathy of undetermined significance: a case report. | [
"We report a case of adult-type Gaucher's disease associated with monoclonal gammapathy of undetermined significance. Bone marrow infiltration by Gaucher's cells and spleen infiltration by Gaucher cells and plasma cells was observed on cytohistologic examination. Splenectomy induced complete recovery of cytopenias ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult-type Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"adult-type Gaucher's disease"
] | null | null | [
"Splenectomy"
] | null | [
"monoclonal gammapathy of undetermined significance",
"complete recovery of cytopenias",
"marked reduction of the monoclonal protein"
] | null |
gaucher:8097401 | Anesthetic considerations in the child with Gaucher disease. | [
"We present the case of a 7-month-old girl with Gaucher disease who required anesthetic care during laryngoscopy, bronchoscopy, and central line placement. Gaucher disease is a familial disorder of lipid catabolism with autosomal recessive inheritance. Due to the defective function of the enzyme glucosylceramide be... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 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 7-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Gaucher disease",
"Gaucher disease",
"types II and III"
] | [
"familial disorder of lipid catabolism",
"autosomal recessive inheritance"
] | [
"end-organ dysfunction",
"central nervous system (CNS) involvement",
"significant CNS dysfunction",
"seizures",
"gastroesophageal reflux",
"chronic aspiration",
"Bulbar involvement",
"upper airway obstruction",
"hepatosplenomegaly",
"end-organ dysfunction"
] | [
"anesthetic care",
"laryngoscopy",
"bronchoscopy",
"central line placement",
"anesthetic care"
] | null | [
"defective function of the enzyme glucosylceramide beta-glucosidase",
"hypersplenism",
"thrombocytopenia",
"anemia"
] | null |
gaucher:8460394 | Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency. | [
"It is now clear that the lysosomal hydrolysis of sphingolipids requires both lysosomal enzymes and so-called sphingolipid activator proteins (SAPs). One gene, called prosaposin, codes for a precursor protein that is proteolytically cut into four putative SAPs. These four SAPs, of about 80 amino acids, share some s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It is now clear that 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 lysosomal hydrolysis of sphingolipids\n <span style=\"font-size: 0.8em; font-weig... | [
"Gaucher disease",
"variant form of Gaucher disease"
] | [
"prosaposin",
"Domain 3 of prosaposin mRNA",
"point mutation in domain 3",
"a T-to-G substitution at position 1144 (counting from the A of ATG initiation codon) in half of the M13 recombinant clones",
"changes the codon for cysteine382 to glycine"
] | [
"died"
] | null | null | [
"lysosomal enzymes",
"sphingolipid activator proteins (SAPs)",
"SAP-2",
"activator of glucocerebrosidase",
"defects in glucocerebrosidase",
"half of the normal amount of mRNA for prosaposin in her cultured skin fibroblasts",
"deficiency of all four SAPs coded for by prosaposin from his mother"
] | [
"normal enzyme levels"
] |
gaucher:8423040 | Orthotopic liver transplantation in two adults with Niemann-Pick and Gaucher's diseases: implications for the treatment of inherited metabolic disease. | [
"Two adults were seen with cirrhosis caused by different lipid storage diseases. A 42-yr-old woman with Niemann-Pick disease type B had marked hepatomegaly, ascites and recent variceal bleeding. Her evaluation showed chronic bilateral pulmonary infiltrates, multiple stigmata of chronic liver disease including the r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adults\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"cirrhosis",
"lipid storage diseases",
"Niemann-Pick disease type B",
"Gaucher's disease",
"Niemann-Pick disease",
"Gaucher's disease",
"lipidoses",
"glycolipid-induced liver damage"
] | null | [
"marked hepatomegaly",
"ascites",
"recent variceal bleeding",
"chronic bilateral pulmonary infiltrates",
"multiple stigmata of chronic liver disease",
"recent cessation of menses",
"diuretic-resistant sterile ascites",
"hepatic encephalopathy",
"variceal bleeding",
"hepatomegaly",
"jaundice",
... | [
"history of bilateral hip replacements",
"orthotopic liver transplantation",
"transplantation",
"transplantation"
] | null | [
"Five percent of normal sphingomyelinase activity was measured in peripheral leukocytes",
"20% to 23% of normal glucocerebrosidase activity in peripheral leukocytes",
"above normal hepatic sphingomyelinase activity",
"a less-marked increase in peripheral leukocyte enzyme activity",
"lower than normal hepati... | null |
gaucher:8009089 | [Course of a case of Gaucher's disease type 1 treated over a year with glucocerebrosidase (Cérédase)]. | [
"Gaucher's disease is caused by a deficiency of glucocerebrosidase. Enzyme replacement therapy with glucocerebrosidase (Ceredase) is available in France since 1991. We report the clinical effectiveness in a woman with type 1 Gaucher's disease treated with the enzyme for one year. Hepatomegaly regressed, bone pain d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"type 1 Gaucher's disease"
] | null | [
"Hepatomegaly regressed",
"bone pain decreased",
"improvement of severe skeletal manifestations were slow and incomplete"
] | [
"Enzyme replacement therapy with glucocerebrosidase (Ceredase)",
"treated with the enzyme for one year"
] | [
"France"
] | [
"deficiency of glucocerebrosidase"
] | null |
gaucher:1488736 | [Gaucher's disease in childhood: presentation and treatment]. | [
"M. Gaucher is a lysosomal storage disorder. Patients present with hepatosplenomegaly or with complaints of the bones. Clinically 3 subtypes can be distinguished; the 'adult' type I is most frequent found. On the basis of 10 case histories the presentation in childhood is reported. Only recently treatment with enzy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n M. Gaucher\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ver... | [
"M. Gaucher",
"lysosomal storage disorder",
"adult' type I",
"M. Gaucher"
] | null | [
"hepatosplenomegaly",
"complaints of the bones"
] | [
"treatment with enzyme replacement therapy"
] | null | null | null |
gaucher:1294753 | Magnetic resonance imaging assessment of sacroiliac joint involvement in Gaucher's disease. | [
"A young woman with Gaucher's disease experienced acute pain in her right sacroiliac (SI) joint. Although pelvic radiographs and computed tomographic scan showed no significant change in the right SI joint, magnetic resonance imaging demonstrated an area of high signal intensity in the iliac part of the right SI jo... | [
"<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",
"Gaucher's disease"
] | null | [
"acute pain in her right sacroiliac (SI) joint",
"area of high signal intensity in the iliac part of the right SI joint",
"skeletal location",
"bone crisis",
"bone infarct"
] | null | null | null | [
"showed no significant change in the right SI joint"
] |
gaucher:1445974 | Anaerobic osteomyelitis in patients with Gaucher's disease. | [
"Bone involvement in patients with Gaucher's disease is common, and some of its clinical manifestations may resemble acute osteomyelitis. In addition, many studies have emphasized the high risk of secondary infection when surgical procedures are performed at the site of the involved bone. Nevertheless, these infect... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Bone involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Gaucher's disease",
"acute osteomyelitis",
"Gaucher's disease",
"osteomyelitis due to Prevotella (Bacteroides) melaninogenica",
"acute hematogenic osteomyelitis",
"Gaucher's disease"
] | null | [
"Bone involvement",
"secondary infection",
"anaerobes"
] | [
"surgical procedures"
] | null | null | null |
gaucher:1408099 | [A case of adult Gaucher disease]. | [
"The authors describe a case of an adult patient having Gaucher's disease, who had hepatosplenomegaly and pancytopenia. The diagnosis was established by the low level of leukocyte beta-glucosidase and by histology of bone marrow, liver and spleen. The patient had no bone pain, but MRI described characteristic lesio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors describe a case 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 adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Gaucher's disease",
"Gaucher's disease of type II, the acute neuropathic form"
] | null | [
"hepatosplenomegaly",
"characteristic lesions of the femur"
] | [
"splenectomy"
] | null | [
"pancytopenia",
"low level of leukocyte beta-glucosidase",
"Serum acid phosphatase was characteristically elevated",
"hypersplenism was reduced",
"lower leukocyte beta-glucosidase activity too"
] | [
"no bone pain",
"chromosome examination is normal"
] |
gaucher:1470721 | [Complications of Gaucher's disease]. | [
"We discuss two cases of Gaucher's disease of the adult with neurological complications. First of the patients came to Hospital due to sudden pain in dorso-lumbar region and motor weakness of lower extremities. In the neurological exploration there were no concluding objective deficit signs except an unstable deamb... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We discuss 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's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"neurological complications",
"sudden pain in dorso-lumbar region",
"motor weakness of lower extremities",
"unstable deambulation",
"symptoms disappeared progressively",
"crushed in the last three dorsal vertebral",
"mild and transitory medullar compression",
"intraparenchymatous brain hemorrhage"
] | [
"several hours of rest"
] | null | [
"platelet depletion",
"mild coagulation disorders"
] | [
"no concluding objective deficit signs"
] |
gaucher:1437405 | Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. | [
"A group of neonates with Gaucher disease with a particularly devastating clinical course is described. The phenotype of these infants is analogous to that of a Gaucher mouse, which was created by targeted disruption of the mouse glucocerebroside gene. Similar to the homozygous mutant mice with glucocerebrosidase d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A group 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 neonates\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Gaucher disease",
"Gaucher mouse",
"Gaucher disease",
"Gaucher",
"metabolic diseases"
] | [
"targeted disruption of the mouse glucocerebroside gene",
"homozygous",
"transgenetic",
"inherited disorders"
] | [
"rapidly progressing fulminant disease",
"ichthyotic skin",
"hydrops fetalis"
] | null | null | [
"glucocerebrosidase deficiency"
] | null |
gaucher:1415223 | Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. | [
"Gaucher disease is the most frequent lysosomal storage disease and the most prevalent Jewish genetic disease. About 30 identified missense mutations are causal to the defective activity of acid beta-glucosidase in this disease. cDNAs were characterized from a moderately affected 9-year-old Ashkenazi Jewish Gaucher... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disease",
"Gaucher disease type 1",
"Gaucher disease",
"Gaucher disease"
] | [
"missense mutations",
"enzyme-deficient, 1226G (Asn370----Ser [N370S]) homozygous grandfather was nearly asymptomatic",
"the 1226G mutation, an exact exon 2 (delta EX2) deletion, a deletion of exon 2 and the first 115 bp of exon 3 (delta EX2-3)",
"completely normal sequence",
"delta EX2, the delta EX2-3",
... | null | null | [
"Jewish genetic disease",
"Ashkenazi Jewish",
"Ashkenazi Jewish"
] | [
"defective activity of acid beta-glucosidase"
] | null |
gaucher:1395188 | Cardiac tamponade in a patient with Gaucher's disease. | [
"Gaucher's disease, a familial inborn error of metabolism associated with hepatosplenomegaly and hypersplenism, was first described by Earnest Gaucher in 1882. By 1959, Hsia found published reports on more than 300 cases. Most reports mentioned the bleeding tendencies of patients with Gaucher's, but show that major... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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",
"Type I Gaucher's disease"
] | [
"familial inborn error of metabolism"
] | [
"hepatosplenomegaly",
"bleeding tendencies",
"major hemorrhagic complications",
"hemorrhagic pericarditis with cardiac tamponade"
] | null | null | [
"hypersplenism"
] | null |
gaucher:1333717 | Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. | [
"We describe three adult siblings with communicating hydrocephalus, corneal opacities, deafness, valvular heart disease, and deformed toes associated with glucosylceramide (glc-cer)-beta-glucosidase deficiency. The common manifestations of Gaucher disease were not evident. Supranuclear gaze palsies characteristic o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"type 3",
"type 2 Gaucher disease"
] | null | [
"communicating hydrocephalus",
"corneal opacities",
"deafness",
"valvular heart disease",
"deformed toes",
"Supranuclear gaze palsies",
"thickened leptomeninges with perivascular fibrosis",
"non-rheumatic calcified aortic and mitral stenosis with marked fibrosis"
] | null | null | [
"glucosylceramide (glc-cer)-beta-glucosidase deficiency",
"activity of glc-cer-beta-glucosidase was markedly decreased in the tissues"
] | [
"common manifestations of Gaucher disease were not evident",
"were undeveloped",
"Common mutations were not found in the glucocerebrosidase gene"
] |
gaucher:1331780 | [Response criteria for enzyme substitution in Gaucher disease]. | [
"Recently the intravenous enzyme replacement therapy with modified beta-glucocerebrosidase has become available for patients with M. Gaucher. We report here the considerable improvement of activity and vigor in a 5 year old girl with type 1 M. Gaucher administering 60 IU/kg every two weeks for 6 months. The platele... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Recently 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 intravenous enzyme replacement therapy with modified beta-glucocerebrosidase\n <span style=\"... | [
"M. Gaucher",
"type 1 M. Gaucher"
] | null | [
"considerable improvement of activity and vigor",
"showed a decrease by 40%",
"objective response"
] | [
"intravenous enzyme replacement therapy with modified beta-glucocerebrosidase",
"administering 60 IU/kg every two weeks for 6 months",
"enzyme replacement therapy",
"dose reduction for maintenance therapy"
] | null | [
"platelet count increased from 82-96/nl to more than 150/nl",
"hemoglobin from 10.8 to more than 12 g/dl"
] | [
"liver size was not reduced within 6 months of therapy",
"No side effects"
] |
gaucher:1437260 | Long-term follow-up of a total articular resurfacing arthroplasty and a cup arthroplasty in Gaucher's disease. | [
"Patients with Gaucher's disease, a well-described lipid storage disorder with many systemic manifestations, often present to the orthopaedic surgeon with osteonecrosis of the femoral head. This can be a difficult orthopaedic problem because of the patient's young age at presentation and abnormal bone stock. Review... | [
"<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's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Gaucher's disease",
"lipid storage disorder",
"osteonecrosis of the femoral head",
"femoral-head avascular necrosis",
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"systemic manifestations",
"abnormal bone stock"
] | [
"cup arthroplasty and a total articular resurfacing arthroplasty procedure",
"bilateral hip involvement",
"total hip arthroplasty",
"resurfacing arthroplasty",
"total hip arthroplasty"
] | null | null | [
"less-than-"
] |
gaucher:1516222 | Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases. | [
"On the Aland Islands, a 1-month-old girl was diagnosed as having Wolman disease. The diagnosis was confirmed neurochemically; a decreased activity of acid lipase was noted in the proband and her parents had typical carrier values. This is the first Scandinavian case reported. The skin biopsy revealed cytoplasmic a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">On 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 Aland Islands\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Wolman disease",
"rare hereditary disorder"
] | null | [
"some pathological alterations in other organs"
] | null | [
"Aland Islands",
"Scandinavian"
] | [
"decreased activity of acid lipase was noted in the proband"
] | null |
gaucher:1484931 | Successful treatment of bone marrow failure in Gaucher's disease with low-dose modified glucocerebrosidase. | [
"We report the beneficial effects of enzyme replacement therapy with mannose-terminated human glucocerebrosidase ('Ceredase') in a patient suffering from transfusion-dependent bone marrow failure due to Gaucher's disease. Treatment with low-dose enzyme infusions, given twice weekly, rapidly reversed the haematopoie... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 enzyme replacement therapy with mannose-terminated human glucocerebrosida... | [
"Gaucher's disease"
] | null | [
"transfusion-dependent bone marrow failure",
"rapidly reversed the haematopoietic failure",
"incapacitating skeletal disease"
] | [
"enzyme replacement therapy with mannose-terminated human glucocerebrosidase ('Ceredase')",
"Treatment with low-dose enzyme infusions, given twice weekly",
"prior splenectomy"
] | null | null | null |
gaucher:1287771 | ["Spontaneous" hematoma of the psoas in Gaucher's disease]. | [
"The authors report a case of iliac muscle haematoma responsible for inguinal pain in a patient with Gaucher's disease type I. This exceptional cause of pain must now be considered side by side with the classical femoral head osteonecrosis and infectious coxitis. Magnetic resonance imaging appears to be the most se... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n iliac muscle haematoma\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"femoral head osteonecrosis",
"infectious coxitis",
"Gaucher's disease"
] | null | [
"iliac muscle haematoma",
"inguinal pain",
"pain",
"hip pain",
"spontaneousness of the haematoma"
] | null | null | null | [
"absence of thrombocytopenia and franck abnormality of coagulation"
] |
gaucher:1287770 | [Pyogenic osteomyelitis in Gaucher's disease]. | [
"Gaucher's disease is a sphingolipidosis which may be accompanied by severe pain in the bones. We report a case of Bacteroides fragilis osteomyelitis consecutive to surgical biopsy. The bone pain may be due to ischaemia of the bone or to a pyogenic osteomyelitis which is iatrogenic in most cases. The clinical and 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",
"sphingolipidosis",
"Bacteroides fragilis osteomyelitis",
"pyogenic osteomyelitis"
] | null | [
"severe pain in the bones",
"bone pain",
"ischaemia of the bone"
] | [
"surgical biopsy"
] | null | null | null |
gaucher:1603628 | Allogenic bone marrow transplantation in severe Gaucher disease. | [
"Gaucher disease is the most prevalent lysosomal storage disease. This autosomal recessive disease is caused by the defective activity of the enzyme acid beta-glucosidase and the resultant accumulation of glucosylceramide primarily within cells of the reticuloendothelial system. Because the primary manifestations 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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Gaucher disease",
"lysosomal storage disease",
"Gaucher disease",
"subacute neuronopathic Gaucher disease",
"Gaucher disease"
] | [
"autosomal recessive disease"
] | [
"rapidly progressing visceral manifestations",
"complete, stable engraftment",
"nearly complete correction in the viscera",
"complete engraftment",
"Nearly coincident improvements in hepatic size, enzyme levels",
"and histology",
"Fatal sepsis"
] | [
"curative intervention via bone marrow transplantation (BMT)",
"BMT",
"post-BMT",
"post-BMT",
"gene therapy via BMT",
"introduction of acid beta-glucosidase gene constructs into autologous pluripotent stem cells"
] | [
"Hispanic"
] | [
"defective activity of the enzyme acid beta-glucosidase",
"Complete reconstitution of enzymatic activity in peripheral blood leukocytes",
"Plasma glucosylceramide levels normalized"
] | [
"neuropathic manifestations did not progress"
] |
gaucher:1603627 | Enzyme augmentation in moderate to life-threatening Gaucher disease. | [
"Gaucher disease type 1 (GD type 1) is the most prevalent lysosomal storage disease and has its highest frequency in the Ashkenazi Jewish population. Deficiency of the enzyme, acid beta-glucosidase, results in the deposition of glucocerebroside primarily in macrophages. The accumulation of such \"Gaucher cells\" le... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher disease type 1 (GD type 1)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Gaucher disease type 1 (GD type 1)",
"lysosomal storage disease",
"GD type 1",
"GD type 1"
] | null | [
"visceromegaly",
"hepatic and bone marrow dysfunction",
"bony disease",
"moderate to life-threatening manifestations",
"Hepatic and splenic volumes decreased by approximately 20% (range = 3-35%) and approximately 35% (20-52%)",
"Hematologic and hepatic volume improvements",
"hematologic and visceral imp... | [
"received 6-12 mo of enzyme augmentation with a macrophage-targeted acid beta-glucosidase preparation",
"splenectomized",
"nonsplenectomized",
"enzyme doses of 30, 50, or 60 IU/kg administered every 2 wk",
"enzyme infusion",
"targeted enzyme augmentation"
] | [
"Ashkenazi Jewish"
] | [
"Deficiency of the enzyme, acid beta-glucosidase",
"hypersplenism",
"substantial increases in Hb levels (mean = +30%) and platelet counts (mean = +39%)",
"High levels (approximately 10-fold normal) were present in bone marrow samples",
"d after infusions"
] | [
"no",
"Normal levels of acid beta-glucosidase activity were present in hepatic autopsy samples",
"exogenous activity was absent from brain and lung specimens"
] |
gaucher:1580127 | Gaucher's disease in an infant diagnosed by fine needle aspiration of the liver and spleen. A case report. | [
"A case of Gaucher's disease diagnosed by means of fine needle aspiration of the liver and spleen in a 12-month-old boy with hepatosplenomegaly is presented. The diagnosis was based on the finding of large, macrophagelike cells with abundant, pale, fibrillary cytoplasm and small nuclei. The patient had no family hi... | [
"<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 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Gaucher's disease"
] | null | [
"hepatosplenomegaly"
] | null | null | null | [
"no family history of Gaucher's disease",
"not suspected clinically"
] |
gaucher:1568755 | Gaucher's disease in the presence of normal glucocerebrosidase activity. | [
"We encountered an infant with clinical and histopathologic features of Gaucher's disease (infantile, type 2) with normal glucocerebrosidase (D-glucosyl-N-acylsphingosine glucohydrolase, E.C.3.2.1.45) activity. Biochemical analysis was performed on leukocytes, cultured skin fibroblasts, and liver. Normal activity o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We encountered an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n infant\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"juvenile onset (type 3) Gaucher's disease",
"Gaucher's disease"
] | null | [
"clinical and histopathologic features of Gaucher's disease (infantile, type 2)"
] | null | null | [
"deficiency of a sphingolipid activator protein"
] | [
"normal glucocerebrosidase (D-glucosyl-N-acylsphingosine glucohydrolase, E.C.3.2.1.45) activity",
"Normal activity of glucocerebrosidase"
] |
gaucher:1633369 | Multiple space-occupying lesions of the spleen in a case of Gaucher's disease. | [
"A 50-year-old female patient was admitted because of an enormously enlarged spleen and thrombocytopenia. Ultrasonography and magnetic resonance imaging revealed multiple space-occupying lesions in the spleen. She was diagnosed as having Gaucher's disease based on the low level of beta-glucosidase activity in leuko... | [
"<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 50-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Gaucher's disease"
] | null | [
"enormously enlarged spleen",
"multiple space-occupying lesions in the spleen"
] | [
"splenectomy"
] | null | [
"thrombocytopenia",
"low level of beta-glucosidase activity in leukocytes",
"Severe hypersplenism"
] | null |
gaucher:1577979 | Pseudo-Gaucher cells. | [
"A case of acute lymphoblastic leukaemia, associated with cells resembling Gaucher cells in the bone marrow, is reported. The patient had no evidence of inherited Gaucher's disease and the ultrastructural appearance of the cells was consistent with pseudo-Gaucher cells described in other haematological diseases. Th... | [
"<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 acute lymphoblastic leukaemia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"acute lymphoblastic leukaemia",
"acute lymphoblastic leukaemia"
] | null | null | null | null | null | [
"no evidence of inherited Gaucher's disease"
] |
gaucher:1572115 | Skeletal scintigraphy of pseudo-osteomyelitis in Gaucher's disease. Two case reports and a review of the literature. | [
"Two patients with known type 1 Gaucher's disease had signs and symptoms of osteomyelitis. Decreased perfusion and impaired uptake were seen on bone scan. Patient 1 had a culture-negative aspirate of the site. Patient 2 had no surgical procedures. Both improved on bed rest and nonsteroidal anti-inflammatory agents.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two patients with known \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"type 1 Gaucher's disease",
"osteomyelitis",
"pseudo-osteomyelitis",
"pseudo-osteomyelitis",
"Gaucher's disease"
] | null | [
"signs and symptoms of osteomyelitis",
"Decreased perfusion and impaired uptake"
] | [
"bed rest",
"nonsteroidal anti-inflammatory agents"
] | null | [
"photopenia"
] | [
"no surgical procedures"
] |
gaucher:1735829 | Dose-dependent responses to macrophage-targeted glucocerebrosidase in a child with Gaucher disease. | [
"Long-term studies of a child with Gaucher disease indicated that the response to treatment with macrophage-targeted glucocerebrosidase (glucosylceramidase) is dose dependent, and that the hematologic response precedes the skeletal response."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Long-term studies 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; border-r... | [
"Gaucher disease"
] | null | [
"skeletal response"
] | [
"treatment with macrophage-targeted glucocerebrosidase (glucosylceramidase)"
] | null | [
"hematologic response"
] | null |
gaucher:1733488 | Gaucher's disease involving the spleen. | [
"Gaucher's disease is a rare inherited disorder that results from progressive accumulation of glucocerebrosides within the reticuloendothelial system and affects the liver, the spleen, the bone marrow and the lymph nodes. Ultrasonography of the spleen typically demonstrates hypoechoic focal masses; however, the les... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease"
] | [
"rare inherited disorder"
] | [
"hypoechoic focal masses",
"hyperechoic",
"extensive fibrosis",
"infarction",
"splenomegaly",
"splenic masses of mixed echogenicity"
] | null | [
"Ashkenazi"
] | null | [
"none of which demonstrated fibrosis or infarction"
] |
gaucher:1736272 | Gaucher's disease with mitral and aortic involvement: echocardiographic findings. | [
"Cardiac involvement in Gaucher's disease has been reported in only a few patients, mostly adults with pericardial changes. We describe findings in two siblings with Gaucher's disease, aged 15 and 9 years respectively, in whom mitral and aortic valve lesions were evaluated by auscultation and echocardiography. In b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Gaucher's disease",
"Gaucher's disease",
"Gaucher's disease"
] | null | [
"Cardiac involvement",
"pericardial changes",
"mitral and aortic valve lesions",
"the mitral and aortic valves were thick and restricted in motion",
"significant mitral regurgitation and mitral stenosis",
"At the aortic valve level",
"systolic pressure gradient",
"cardiac involvement"
] | null | null | null | null |
gaucher:1729081 | Fatal respiratory failure caused by pulmonary infiltration by pseudo-Gaucher cells. | [
"Pseudo-Gaucher cells are reticuloendothelial cells that are found in several diseases. We report a case of pulmonary tuberculosis in which extensive pulmonary involvement with these cells resulted in fatal respiratory failure."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pseudo-Gaucher cells are reticuloendothelial cells\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"pulmonary tuberculosis"
] | null | [
"fatal respiratory failure"
] | null | null | null | null |
gaucher:1640076 | [Retinal involvement in Gaucher's disease]. | [
"Gaucher's disease, a storage disease, causes storage of the sphingolipid glucosylceramide in the reticulo endothelial system. The manifestations of such deposits within the retina consist of the appearance of numerous whitish spots, such as preretinian infiltrates. Several authors have noticed the higher frequency... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Gaucher's disease",
"storage disease",
"Gaucher's disease"
] | null | [
"numerous whitish spots, such as preretinian infiltrates",
"appearance of such spots",
"systemic infiltration was massive",
"whitish preretinian deposits",
"systemic infiltration"
] | [
"splenectomized"
] | null | null | [
"spite of the fact that the spleen had not been removed"
] |
gaucher:1603561 | Gaucher's disease: case report of mandibular trauma. | [
"Gaucher's disease is a disturbance of lipid storage that results in the accumulation of histiocytes filled with glucosyl ceramide in various organs and bones. Clinical features include history of epistaxis, hemoptysis, and spontaneous gingival hemorrhage. This article reviews Gaucher's disease with reference to it... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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"
] | null | [
"history of epistaxis",
"hemoptysis",
"spontaneous gingival hemorrhage"
] | [
"mandibular trauma"
] | null | null | null |
gaucher:1596484 | Foamy transformed Gaucher cells. | [
"Two cases of Gaucher's disease (Types I and III) are described with a substantial part of the storage cell population in several organs (liver, adrenal cortex) intensively vacuolized and transformed into non-specific foam cells. The transformation process encompassed massive three-dimensional distension of the lys... | [
"<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's disease (Types I and III)\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Gaucher's disease (Types I and III)"
] | null | null | null | null | null | [
"diagnostic embarrassment"
] |
gaucher:1594320 | Gaucher's disease. Plain radiography, US, CT and MR diagnosis of lungs, bone and liver lesions. | [
"We report our observations made by conventional radiography, ultrasound, computerized tomography (CT), and magnetic resonance imaging (MRI) on a 3 1/2-year-old girl with Gaucher's disease. The interest of the case consists in the exceptional lungs involvement, the demonstration by MRI of the bone marrow involvemen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report our observations made by \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n conventional radiography\n <span style=\"font-size: 0.8em; font-weight:... | [
"Gaucher's disease",
"liver complication"
] | null | [
"exceptional lungs involvement",
"bone marrow involvement"
] | null | null | null | null |
gaucher:1845033 | Neurologic complications of nonneuronopathic Gaucher's disease. | [
"We describe eight patients with type 1 Gaucher's disease who developed neurologic complications that were secondary to systemic features of the illness. Four patients experienced neurologic difficulties because of coagulopathy, and the other four patients had involvement of the nervous system secondary to skeletal... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe eight patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n type 1 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"type 1 Gaucher's disease",
"skeletal disease",
"type 1 Gaucher's disease"
] | null | [
"neurologic complications",
"systemic features of the illness",
"neurologic difficulties",
"involvement of the nervous system",
"neurologic outcome"
] | null | null | [
"coagulopathy"
] | null |
gaucher:1840477 | A new glucocerebrosidase-gene missense mutation responsible for neuronopathic Gaucher disease in Japanese patients. | [
"We have identified a new T-to-A single-base substitution at nucleotide 3548 (in the genomic sequence) in exon 6 in the glucocerebrosidase gene from a patient with Gaucher disease type 3. This mutation caused a substitution of isoleucine for phenylalanine at amino acid residue 213 (of 497 residues in the mature pro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We have identified 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 T-to-A single-base substitution at nucleotide 3548 (in the genomic sequence) in exon... | [
"Gaucher disease type 3",
"Gaucher disease",
"neuronopathic",
"neuronopathic",
"Gaucher disease"
] | [
"new T-to-A single-base substitution at nucleotide 3548 (in the genomic sequence) in exon 6 in the glucocerebrosidase gene",
"mutation caused a substitution of isoleucine for phenylalanine at amino acid residue 213 (of 497 residues in the mature protein)",
"mutant allele",
"severe [corrected] alleles"
] | [
"neurological manifestations"
] | null | [
"Japanese",
"Japanese Gaucher disease"
] | [
"deficient activity of glucocerebrosidase"
] | null |
gaucher:1800968 | Partial splenectomy for massive splenomegaly secondary to Gaucher's disease. | [
"A 16 year old girl with Type 1 Gaucher's disease presented with massive splenomegaly, hypersplenism and abdominal discomfort. Traditionally hypersplenism has been treated with splenectomy, but this results in a high incidence of overwhelming sepsis and accelerated sphingolipid deposition in both liver and bone. A ... | [
"<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 16 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Type 1 Gaucher's disease"
] | null | [
"massive splenomegaly",
"abdominal discomfort",
"overwhelming sepsis",
"marked improvement in her haematological parameters and general condition"
] | [
"splenectomy",
"90% partial splenectomy",
"leaving a fully vascularized inferior segment of the spleen and resecting 5.8 kg of splenic tissue"
] | null | [
"hypersplenism",
"hypersplenism"
] | null |
gaucher:1793346 | [Recurrent coxopathy, isolated manifestation of Gaucher's disease]. | [
"A case of Gaucher's disease is reported in a 12 year-old girl. Presenting signs consisted of relapsing hip arthritis, while no splenomegaly was detectable. The authors comment the inflammatory or moderately hemorrhagic nature of articular fluid and the diagnostic value of an early decreased uptake on bone scintisc... | [
"<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 Gaucher's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Gaucher's disease"
] | null | [
"relapsing hip arthritis",
"early decreased uptake on bone scintiscan"
] | null | null | null | [
"no splenomegaly was detectable"
] |
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