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Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.

American journal of medical genetics. Part A - 1 Nov 2009

Schneider Adele, Nakagawa Sachiko, Keep Rosanne, Dorsainville Darnelle, Charrow Joel, Aleck Kirk, Hoffman Jodi, Minkoff Sherman, Finegold David, Sun Wei, Spencer Andrew, Lebow Johannah, Zhan Jie, Apfelroth Stephen, Schreiber-Agus Nicole, Gross Susan

Abstract excerpt

Tay-Sachs disease (TSD) carrier screening, initiated in the 1970s, has reduced the birth-rate of Ashkenazi Jews with TSD worldwide by 90%. Recently, several nationwide programs have been established that provide carrier screening for the updated panel of Jewish genetic diseases on college campuses and in Jewish community settings. The goals of this study were to determine the performance characteristics of...

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PMID: 19876898
DOI: 10.1002/ajmg.a.33085

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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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