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• W183824012 abstract "Without available treatments for most inborn errors of metabolism, prevention of disease by identification of couples at risk has been a goal of both geneticists and health care providers. This article, using Tay-Sachs disease as an example, focuses on how our understanding of genetic, biochemical, and molecular aspects of a metabolic disease can be applied to the development of a successful carrier screening program. Details of the biochemical assays used in the detection of Tay-Sachs disease carriers in addition to new molecular techniques that are being applied clinically are reviewed." @default.
• W183824012 created "2016-06-24" @default.
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• W183824012 creator A5081863832 @default.
• W183824012 date "1992-09-01" @default.
• W183824012 modified "2023-09-24" @default.
• W183824012 title "Tay-Sachs Disease as a Model for Screening Inborn Errors" @default.
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• W183824012 doi "https://doi.org/10.1016/s0272-2712(18)30500-6" @default.
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