Voprosy meditsinskoi khimii (ISSN 0042-8809)

Prenatal diagnosis of mannosidosis using chorion villi

   
Petushkova N.A., Tsvetkova I.V., Fuks M.A., Doronin G.L., Iakubovich D.V.
PubMed Id: 2958965
Year: 1987 vol: 33  issue:4  pages: 99-101
Abstract: The prenatal diagnosis of mannosidosis was carried out in one at-risk fetus by the analysis of chorionic villi obtained after 9 weeks of pregnancy. The diagnosis was based on the absence of acid alpha-mannosidase activity as determined by specific enzyme assay. The activity of two other lysosomal hydrolases (beta-galactosidase and beta-hexosaminidase) in chorion biopsy specimen was similar to the control values. The enzymatic diagnosis was confirmed after studies of fetal tissue.
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Reference: Petushkova N.A., Tsvetkova I.V., Fuks M.A., Doronin G.L., Iakubovich D.V., Prenatal diagnosis of mannosidosis using chorion villi, Voprosy meditsinskoi khimii, 1987, vol: 33(4), 99-101.
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