Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
The biochemical basis for the therapeutic effects of thiamin in thiamin-responsive maple-syrup-urine disease (MSUD) was investigated in intact and disrupted fibroblast cultures from normals and patients with various forms of MSUD. Decarboxylation of alpha-keto[1-14C]isovalerate (KIV) by intact cells...
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| Udgivet i: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
National Academy of Sciences
1982
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC346403/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6954481/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.79.10.3300 |
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