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Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
Newborn screening (NBS) for medium-chain acyl-CoA dehydrogenase deficiency (MCADD) revealed a higher birth prevalence and genotypic variability than previously estimated, including numerous novel missense mutations in the ACADM gene. On average, these mutations are associated with milder biochemical...
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| Main Authors: | , , , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Oxford University Press
2009
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2667288/ https://ncbi.nlm.nih.gov/pubmed/19224950 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp079 |
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