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  Volume: 32  Issue: 5  Pages: 120-123
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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Vidershain, G. Ia., Beier, E. M., Mendel'son, M. M., Livandovskii, Iu. A. (1986). Biochemical diagnosis of Anderson-Fabry disease in two brothers. Voprosy Meditsinskoi Khimii, 32(5), 120-123.
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