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...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 2016-05, Vol.39 (3), p.399-408
Hauptverfasser:	McCoin, Colin S., Piccolo, Brian D., Knotts, Trina A., Matern, Dietrich, Vockley, Jerry, Gillingham, Melanie B., Adams, Sean H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acyl-CoA Dehydrogenase, Long-Chain - deficiency Acyl-CoA Dehydrogenase, Long-Chain - metabolism Adolescent Biochemistry Carnitine - analogs & derivatives Carnitine - metabolism Carnitine O-Palmitoyltransferase - deficiency Carnitine O-Palmitoyltransferase - metabolism Case-Control Studies Ceramides - metabolism Fatty Acids - metabolism Female Human Genetics Humans Internal Medicine Lipid Metabolism Lipid Metabolism, Inborn Errors - metabolism Male Medicine Medicine & Public Health Metabolic Diseases Metabolic Networks and Pathways - physiology Metabolism, Inborn Errors - metabolism Original Article Oxidation-Reduction Pediatrics Phosphatidylcholines - metabolism Phosphatidylethanolamines - metabolism Plasma - metabolism Sphingomyelins - metabolism Triglycerides - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!