Results 141 to 150 of about 10,573,620 (195)
Gaucher's disease with uncommon presentations.
J Cytol, 2009 Gupta SS, Mondal P, Basu N, Mallick MG.
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The Lancet, 2001
Correspondence to: Dr Deborah Elstein (e-mail: zimran@md2.huji.ac.il) reduced enzyme activity with accumulation of glucosylceramide in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher’s disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component (panel).
D. Elstein +3 more
semanticscholar +4 more sources
Correspondence to: Dr Deborah Elstein (e-mail: zimran@md2.huji.ac.il) reduced enzyme activity with accumulation of glucosylceramide in the macrophages of the reticuloendothelial system. Three clinical subtypes of Gaucher’s disease have been described on the basis of the absence (type I) or presence (types II and III) of a neurological component (panel).
D. Elstein +3 more
semanticscholar +4 more sources
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. Peters, R. E. Lee, R. Glew
semanticscholar +3 more sources
New England Journal of Medicine, 1987
Traditionally, Gaucher's disease has been divided into three clinical forms, which have recently been reviewed.1 , 2 Type 1 disease is a non-neuronopathic, chronic disorder characterized by hypersp...
M, Lev, K S, Sundaram
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Traditionally, Gaucher's disease has been divided into three clinical forms, which have recently been reviewed.1 , 2 Type 1 disease is a non-neuronopathic, chronic disorder characterized by hypersp...
M, Lev, K S, Sundaram
+7 more sources
Gastroenterology, 1955
Summary 1. A case of Gaucher's disease is described in a young adult who had no symptoms referable to this condition. 2. The diagnosis was established by liver biopsy examination, a method not previously discussed in relation to this disease.
P, EDLIN, W E, KEPLER, G W, KNABE
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Summary 1. A case of Gaucher's disease is described in a young adult who had no symptoms referable to this condition. 2. The diagnosis was established by liver biopsy examination, a method not previously discussed in relation to this disease.
P, EDLIN, W E, KEPLER, G W, KNABE
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The Indian Journal of Pediatrics, 1973
1. The literature regarding Gaucher's discase is briefly reviewed. 2. Clinico-pathological findings of a fatal case of Gaucher's disease in an infant are recorded. 3. The predominant accumulation of galacto-cerebroside in the splcen observed on chemical analysis is commented upon. 4.
N K, Patoria +4 more
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1. The literature regarding Gaucher's discase is briefly reviewed. 2. Clinico-pathological findings of a fatal case of Gaucher's disease in an infant are recorded. 3. The predominant accumulation of galacto-cerebroside in the splcen observed on chemical analysis is commented upon. 4.
N K, Patoria +4 more
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Joint Bone Spine, 2008
Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase. The enzyme substrate, glucocerebroside, accumulates in the body, predominantly in the liver, spleen, and bone marrow.
Pascal, Guggenbuhl +2 more
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Gaucher disease is an inherited recessive autosomal metabolic defect due to a deficiency of the lysosomal enzyme beta-glucocerebrosidase. The enzyme substrate, glucocerebroside, accumulates in the body, predominantly in the liver, spleen, and bone marrow.
Pascal, Guggenbuhl +2 more
openaire +2 more sources