A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common known genetic disorder of fatty acid oxidation. Most (approximately 80%) cases are homozygous for a single mutation: A to G replacement at nucleotide 985 (A985G). MCAD deficiency typically presents in the second year of life as...

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izdano v:	J Clin Invest
Principais autores:	Brackett, J C, Sims, H F, Steiner, R D, Nunge, M, Zimmerman, E M, deMartinville, B, Rinaldo, P, Slaugh, R, Strauss, A W
Format:	Artigo
Jezik:	Inglês
Izdano:	American Society for Clinical Investigation 1994
Teme:	Research Article
Online dostop:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295287/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7929823/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117486
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