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Maple syrup urine disease: mechanisms and management
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloi...
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| Publié dans: | Appl Clin Genet |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Dove Medical Press
2017
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5593394/ https://ncbi.nlm.nih.gov/pubmed/28919799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S125962 |
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