Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes
β Scribed by Yoshiyuki Suzuki; Peter H. Berman; Kunihiko Suzuki
- Book ID
- 118536731
- Publisher
- Elsevier Science
- Year
- 1971
- Tongue
- English
- Weight
- 344 KB
- Volume
- 78
- Category
- Article
- ISSN
- 1097-6833
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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
## Abstract Enzymeβreplacement treatment for metabolic storage disorders has been widely studied using model cell culture systems. This study determines the longβterm fate of human hexosaminidase A supplied to TayβSachs disease brain and lung cells. Hex A retention studies showed that the incorpora