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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Hlavní autoři: Touw, Catharina ML, Smit, G Peter A, Niezen-Koning, Klary E, Boer, Conny Bosgraaf-de, Gerding, Albert, Reijngoud, Dirk-Jan, Derks, Terry GJ
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2013
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Research
On-line přístup: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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