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Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.
To study the enzymatic basis of isovaleric acidemia, we have developed assay methods for isovaleryl-CoA and butyryl-CoA dehydrogenases that measure the amount of tritium released from the respective [2,3-3H]acyl CoAs. Because assay of these enzymes in human fibroblast homogenates was subject to inte...
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| Autori principali: | , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
1980
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC348317/ https://ncbi.nlm.nih.gov/pubmed/6928646 |
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