Voprosy meditsinskoi khimii (ISSN 0042-8809)

Biochemical diagnosis of Anderson-Fabry disease in two brothers

   
Vidershain G.Ia., Beier E.M., Mendel'son M.M., Livandovskii Iu.A.
PubMed Id: 3095985
Year: 1986 vol: 32  issue:5  pages: 120-123
Abstract: Activity of several lysosomal enzymes was studied in leukocytes, blood plasma and skin fibroblasts of two adult brothers with clinical diagnosis of Fabry disease. Activity of ceramide trihexoside-galactosidase was distinctly decreased in both patients. The residual enzymatic activity constituted 5-6% in the patients leukocytes, less than 10% in blood plasma and 25% in fibroblasts as compared with controls. Differences in composition of alpha-D-galactosidase multiple forms were detected in fibroblasts and blood cells of the patients with Fabry disease as compared with normal leukocytes by means of isoelectric focusing.
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Reference: Vidershain G.Ia., Beier E.M., Mendel'son M.M., Livandovskii Iu.A., Biochemical diagnosis of Anderson-Fabry disease in two brothers, Voprosy meditsinskoi khimii, 1986, vol: 32(5), 120-123.
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