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Article

Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease.

Clinical biochemistry - 1 Apr 1995

Mahuran D J

Abstract excerpt

OBJECTIVES: This report presents an overview of the nearly 100-year history of the study of Tay-Sachs disease in the Ashkenazi Jewish population. DESIGN AND METHODS: Each major step leading to our present understanding of the disease are highlighted. RESULTS: The original interest in the cause of this devastating disease in the late 1800s led to the identification of a novel glycolipid. GM2 ganglioside, stored in...

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Identifiers

PMID: 7628066
DOI: 10.1016/0009-9120(95)00003-r

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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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