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Article

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.

Clinical biochemistry - 1 Oct 1990

Mahuran D J, Triggs-Raine B L, Feigenbaum A J, Gravel R A

Abstract excerpt

Tay-Sachs disease is the prototype of lysosomal storage disease. While it was first described over a century ago, the defective enzyme was not identified until 1969, making possible the development of enzyme-based diagnostic and carrier screening techniques. This led to the establishment of the successful international Tay-Sachs screening program, primarily for the high risk Ashkenazi Jewish population. In the...

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PMID: 2147596
DOI: 10.1016/0009-9120(90)90153-l

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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