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Advances in genetic knowledge during the past 2 decades have led to screening methods and programs for newborns for an increasing number of treatable inherited diseases (for example, phenylketonuria, galactosemia, maple syrup urine disease). Also, these methods can be used to screen and identify heterozygous-carrier couples at-risk for producing offspring affected with tragic genetic disorders (for example, Tay-Sachs disease). Already these advances have had a major impact on preventive medicine. From this perspective, the expert Committee for the Study of Inborn Errors of Metabolism, convened by the National Research Council, carefully studied this problem and prepared a comprehensive, clear, and
Genetic Screening. Programs, Principles, and Research.. Ann Intern Med. 1977;86:514–515. doi: https://doi.org/10.7326/0003-4819-86-4-514_3
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Published: Ann Intern Med. 1977;86(4):514-515.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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