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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Detalles Bibliográficos
Autores principales: Touw, Catharina ML, Smit, G Peter A, Niezen-Koning, Klary E, Boer, Conny Bosgraaf-de, Gerding, Albert, Reijngoud, Dirk-Jan, Derks, Terry GJ
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610156/
https://www.ncbi.nlm.nih.gov/pubmed/23509891
http://dx.doi.org/10.1186/1750-1172-8-43

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610156/
https://www.ncbi.nlm.nih.gov/pubmed/23509891
http://dx.doi.org/10.1186/1750-1172-8-43

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