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Detection of GM2-gangliosidosis (Tay-sachs and Sandhoff disease) gene carriers by serum hexosaminidase assay

โœ Scribed by Brunhilde Molzer; H. Bernheimer


Book ID
115821291
Publisher
Elsevier Science
Year
1976
Tongue
English
Weight
509 KB
Volume
73
Category
Article
ISSN
0009-8981

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Tay-Sachs disease (TSD), a neurodegenerative disorder resulting from a deficiency of the lysosomal enzyme hexosaminidase A (HexA), clusters in Ashkenazic Jews. Population-based screening programs to detect carriers of TSD genes by means of HexA assays have been active since the 1970s. The recent cha