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Article

Tay-Sachs disease screening and diagnosis: evolving technologies.

DNA and cell biology - 1 Oct 1993

Hechtman P, Kaplan F

Abstract excerpt

Tay-Sachs disease (TSD) is an autosomal recessive, progressive, and fatal neurodegenerative disorder. Within the last 25 years, the discovery of the enzymatic basis of the disease, the deficiency of the enzyme hexosaminidase A, has made possible both enzymatic diagnosis of TSD and heterozygote identification. TSD is the first genetic condition for which a community-based heterozygote screening program was...

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Identifiers

PMID: 8397824
DOI: 10.1089/dna.1993.12.651

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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