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...

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Bibliografiske detaljer
Udgivet i:J Clin Invest
Main Authors: Jackson, S, Kler, R S, Bartlett, K, Briggs, H, Bindoff, L A, Pourfarzam, M, Gardner-Medwin, D, Turnbull, D M
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1992
Fag:
Research Article
Online adgang: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
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