Results 201 to 210 of about 29,070 (238)
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Pediatric Drugs, 2002
Gaucher disease, the most prevalent lysosomal storage disorder, is inherited as an autosomal recessive condition. The gold standard for diagnosis is decreased acid beta-glucosidase activity in the lymphocytes or fibroblasts; molecular analysis of mutations allows for some prognostication of disease severity.
Deborah, Elstein +4 more
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Gaucher disease, the most prevalent lysosomal storage disorder, is inherited as an autosomal recessive condition. The gold standard for diagnosis is decreased acid beta-glucosidase activity in the lymphocytes or fibroblasts; molecular analysis of mutations allows for some prognostication of disease severity.
Deborah, Elstein +4 more
openaire +2 more sources
Journal of Pediatric Biochemistry, 2016
Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in this ...
Sestito S +10 more
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Gaucher disease (GD) has been classically divided into three phenotypes primarily according to the absence (type 1 GD or nonneuronopathic GD) or presence and severity (types 2 and 3 GD or neuronopathic GD) of neurological involvement. Despite such distinction, neurological manifestations have been recorded also in patients with type 1 GD: in this ...
Sestito S +10 more
openaire +2 more sources
Critical Reviews in Oncogenesis, 2013
Gaucher disease (GD), the commonest lysosomal storage disorder, is an autosomal recessive condition, caused by deficiency in lysosomal glucocerebrosidase. Skeletal disease, peripheral blood cytopenias and hepato-splenomegaly are common at presentation. Several reports describe an increased risk of cancer in GD; in particular multiple myeloma.
Robert, Ayto, Derralynn A, Hughes
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Gaucher disease (GD), the commonest lysosomal storage disorder, is an autosomal recessive condition, caused by deficiency in lysosomal glucocerebrosidase. Skeletal disease, peripheral blood cytopenias and hepato-splenomegaly are common at presentation. Several reports describe an increased risk of cancer in GD; in particular multiple myeloma.
Robert, Ayto, Derralynn A, Hughes
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A microassay for Gaucher's disease
Clinica Chimica Acta, 1975We report a new assay for the detection of individuals heterozygous and homozygous for Gaucher's disease which requires relatively small samples of whole blood (0.3 ml), and which determines 4-methylumbelliferyl-beta-D-glucopyranoside:beta-glucosidase activity under conditions optimal for the determination of leukocyte glucocerebroside:beta ...
S P, Peters, R E, Lee, R H, Glew
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American Journal of Ophthalmology, 2005
Chronic uveitis has been previously reported in a patient with Gaucher's disease and improved with enzyme replacement therapy. This report describes the course of uveitis in two other patients with type I Gaucher's disease.Observational case reports.Review of all patients in a large referral clinic for Gaucher's disease for incidence of uveitis.Two ...
Altoon, Dweck +4 more
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Chronic uveitis has been previously reported in a patient with Gaucher's disease and improved with enzyme replacement therapy. This report describes the course of uveitis in two other patients with type I Gaucher's disease.Observational case reports.Review of all patients in a large referral clinic for Gaucher's disease for incidence of uveitis.Two ...
Altoon, Dweck +4 more
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Journal of Inherited Metabolic Disease, 2008
SummaryGaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, thrombocytopenia, and skeletal diseases. A wide range of neurological manifestations have also been recognized in Gaucher patients including acute ...
Li-Kai, Tsai +3 more
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SummaryGaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, thrombocytopenia, and skeletal diseases. A wide range of neurological manifestations have also been recognized in Gaucher patients including acute ...
Li-Kai, Tsai +3 more
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Gaucher's disease in pregnancy
American Journal of Obstetrics and Gynecology, 1957Abstract We have presented this case of Gaucher's disease complicating pregnancy because review of the available literature provides little guidance in the management of this problem. We feel that our experience with this case may be of some value in substantiating the belief that the prognosis for a successful outcome of pregnancy and delivery may ...
J B, TETON, N C, TREADWELL
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Thrombocytopenia in Gaucher's Disease
Annals of Internal Medicine, 1971Abstract A 63-year-old man with Gaucher's disease presented with bleeding secondary to thrombocytopenia.
D, Green +3 more
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Annals of Pharmacotherapy, 1996
OBJECTIVE: To review the epidemiology, pathophysiology, clinical features, diagnosis, and treatment of Gaucher's disease, focusing on the role of enzyme replacement therapy. DATA SOURCES: a MEDLINE search (from 1984 to July 1995) of English-language literature pertaining to the treatment of Gaucher's disease was performed.
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OBJECTIVE: To review the epidemiology, pathophysiology, clinical features, diagnosis, and treatment of Gaucher's disease, focusing on the role of enzyme replacement therapy. DATA SOURCES: a MEDLINE search (from 1984 to July 1995) of English-language literature pertaining to the treatment of Gaucher's disease was performed.
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