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Title: [Prenatal diagnosis of mannosidosis using chorion villi]. Author: Petushkova NA, Tsvetkova IV, Fuks MA, Doronin GL, Iakubovich DV. Journal: Vopr Med Khim; 1987; 33(4):99-101. PubMed ID: 2958965. 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.[Abstract] [Full Text] [Related] [New Search]