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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Auteurs principaux: Maier, Esther M., Gersting, Søren W., Kemter, Kristina F., Jank, Johanna M., Reindl, Maria, Messing, Dunja D., Truger, Marietta S., Sommerhoff, Christian P., Muntau, Ania C.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2009
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Articles
Accès en ligne: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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