Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (OMIM 201450) is the most common inherited disorder of fatty acid metabolism presenting with hypoglycaemia, hepatopathy and Reye-like symptoms during catabolism. In the past, the majority of patients carried the prevalent c.985A>G mutation in...

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Detalles Bibliográficos
Autores principales: Sturm, Marga, Herebian, Diran, Mueller, Martina, Laryea, Maurice D., Spiekerkoetter, Ute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444485/
https://www.ncbi.nlm.nih.gov/pubmed/23028790
http://dx.doi.org/10.1371/journal.pone.0045110

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3444485/
https://www.ncbi.nlm.nih.gov/pubmed/23028790
http://dx.doi.org/10.1371/journal.pone.0045110

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