The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes.
Ernest Beutler,Wanda Kuhl +1 more
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Measurement of β-glucosidase activity at pH 4.0 makes it possible to distinguish patients with Gaucher's disease from heterozygote and from normal subjects, and makes possible identification of most heterozygotes.About:
This article is published in Journal of Laboratory and Clinical Medicine.The article was published on 1970-11-01 and is currently open access. It has received 155 citations till now. The article focuses on the topics: Gaucher's disease & Beta-glucosidase activity.read more
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Journal ArticleDOI
Therapeutic goals in the treatment of Gaucher disease
Gregory M. Pastores,Neal J. Weinreb,Hans Aerts,Generoso Andria,Timothy M. Cox,Manuel Giralt,Gregory A. Grabowski,Pramod K. Mistry,Anna Tylki-Szymańska +8 more
TL;DR: Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition and an evidence-based consensus on contemporary therapeutic goals is obtained to arrive at a comprehensive guide to individualized management.
Journal ArticleDOI
Enzyme Loading of Erythrocytes
TL;DR: It is demonstrated that beta-glucosidase and beta-galactosidases can be trapped inside erythrocytes by rapid hemolysis of the cell in the presence of these enzymes, which may provide a useful approach to the problem of enzyme replacement in certain diseases, including Gaucher's disease.
a-Galactosidase activities in plasma, serum, urine, and leukocytes
Robert J. Desnick,Allen Ky,Susan J. Desnick,Mohanreddy K. Raman,Robert W. Bernlohr,William Krivit +5 more
TL;DR: It is suggested that the residual α-galactosidase activity in hemizygotes with this disease is a heat-stable component and that the deficient enzyme in Fabry's disease, ceramide trihexosidases, is the heat-labile, myoinositol-inhibited α-GalactosIDase component.
Journal ArticleDOI
Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes.
Robert J. Desnick,Allen Ky,Susan J. Desnick,Mohanreddy K. Raman,Robert W. Bernlohr,William Krivit +5 more
TL;DR: A sensitive, simple enzymatic assay was developed to measure α-galactosidase activity in plasma, serum, urine, and leukocytes; the demonstration of deficient enzyme activity in these sources, utilizing synthetic fluorogenic substrate, proved to be diagnostic for hemizygotes and heterozygotes with Fabry's disease as discussed by the authors.
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Prediction of severity of Gaucher's disease by identification of mutations at DNA level.
TL;DR: Two mutations, 1226 and 1448, and a new mutation (XOVR) representing cross-over between the glucocerebrosidase gene and its closely linked pseudogene, were found in 47 unrelated patients with type I Gaucher's disease.
References
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Journal Article
Protein Measurement with the Folin Phenol Reagent
TL;DR: Procedures are described for measuring protein in solution or after precipitation with acids or other agents, and for the determination of as little as 0.2 gamma of protein.
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Metabolism of glucocerebrosides. ii. evidence of an enzymatic deficiency in gaucher's disease.
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Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component
Shintaro Okada,John S. O'Brien +1 more
TL;DR: Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both β-D-N-acetylglucosamininidase and β-O-NacetylgalactosaminIDase activity, are present in human tissues.
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The isolation and properties of the specific cytoplasmic granules of rabbit polymorphonuclear leucocytes
Zanvil A. Cohn,James G. Hirsch +1 more
TL;DR: The properties and composition of rabbit polymorphonuclear leucocyte granules seem to be analogous to those of liver lysosomes.