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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...
Tallennettuna:
| Julkaisussa: | J Clin Invest |
|---|---|
| Päätekijät: | , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
American Society for Clinical Investigation
1992
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| Aiheet: | |
| Linkit: | 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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