Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidation

Blood and urine acylcarnitine profiles are commonly used to diagnose long-chain fatty acid oxidation disorders (FAOD: i.e., long-chain hydroxy-acyl-CoA dehydrogenase [LCHAD] and carnitine palmitoyltransferase 2 [CPT2] deficiency), but the global metabolic impact of long-chain FAOD has not been repor...

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Udgivet i:J Inherit Metab Dis
Main Authors: McCoin, Colin S., Piccolo, Brian D., Knotts, Trina A., Matern, Dietrich, Vockley, Jerry, Gillingham, Melanie B., Adams, Sean H.
Format: Artigo
Sprog:Inglês
Udgivet: 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4851894/
https://ncbi.nlm.nih.gov/pubmed/26907176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9915-3
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