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DNA Carrier Testing and Newborn Screening for Maple Syrup Urine Disease in Old Order Mennonite Communities
Maple syrup urine disease (MSUD) is an inherited metabolic disorder caused by mutations in the branched chain α-keto acid dehydrogenase complex. Worldwide incidence of MSUD is 1:225,000 live births. However, within Old Order Mennonite communities, the incidence is 1:150 live births and results from...
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| 發表在: | Genet Test Mol Biomarkers |
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| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Mary Ann Liebert, Inc.
2010
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5586154/ https://ncbi.nlm.nih.gov/pubmed/20136525 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2009.0107 |
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