Wird geladen...

Combined enzyme defect of mitochondrial fatty acid oxidation.

A young girl presented with recurrent episodes of muscle weakness culminating in a severe attack of generalized muscle weakness. In the muscle mitochondria from the patient there was an abnormal pattern of intermediates of beta-oxidation with an accumulation of 3-hydroxyacyl- and 2-enoyl-CoA and car...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:J Clin Invest
Hauptverfasser: Jackson, S, Kler, R S, Bartlett, K, Briggs, H, Bindoff, L A, Pourfarzam, M, Gardner-Medwin, D, Turnbull, D M
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 1992
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443162/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1401059/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115983
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!