In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes

BACKGROUND: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of the mitochondrial fatty acid oxidation, caused by mutations in the ACADM gene. Since the introduction of neonatal screening for MCAD deficiency, a subgroup of newborns have been identified with...

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Main Authors: Touw, Catharina ML, Smit, G Peter A, Niezen-Koning, Klary E, Boer, Conny Bosgraaf-de, Gerding, Albert, Reijngoud, Dirk-Jan, Derks, Terry GJ
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2013
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3610156/
https://ncbi.nlm.nih.gov/pubmed/23509891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-43
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