Voprosy meditsinskoi khimii (ISSN 0042-8809)

Biochemical diagnosis of mannosidosis in 2 families

   
Tsvetkova I.V., Rozenfel'd E.L., Novikova I.M., Barashnev Iu.I., Prigozhina I.G.
PubMed Id: 6109403
Year: 1980 vol: 26  issue:4  pages: 552-555
Abstract: On examination of children with primary diagnosis of mucopolysaccharidosis distinct deficiency of acid alpha-D-mannosidase was found in leukocytes of the children and decrease in the enzymatic activity down to the level of heterozygote carriers was observed in their parents. The activity of neutral alpha-D-mannosidase was within the range of normal values in the children and parents. The examination carried out enabled to establish the diagnosis the hereditary lysosomal disease of accumulation--mannosidosis--in the children.
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Reference: Tsvetkova I.V., Rozenfel'd E.L., Novikova I.M., Barashnev Iu.I., Prigozhina I.G., Biochemical diagnosis of mannosidosis in 2 families, Voprosy meditsinskoi khimii, 1980, vol: 26(4), 552-555.
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