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Article

Detection of Tay-Sachs disease carriers among individuals with thermolabile hexosaminidase B.

European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies - 1 Feb 1994

Peleg L, Goldman B

Abstract excerpt

The determination of hexosaminidases A and B in most programmes for Tay-Sachs disease carrier detection is based on their different heat sensitivity (hexosaminidase A is the heat labile isoenzyme). This routine cannot be employed for individuals who also possess a thermolabile hexosaminidase B. In Israel, 0.6% of the screened samples have a labile hexosaminidases B (about 110 each year) and the assessment of...

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Identifiers

PMID: 8003579
DOI: 10.1515/cclm.1994.32.2.65

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

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