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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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Bibliografiska uppgifter
I publikationen:Proc Natl Acad Sci U S A
Huvudupphovsmän: Chuang, D T, Ku, L S, Cox, R P
Materialtyp: Artigo
Språk:Inglês
Publicerad: National Academy of Sciences 1982
Ämnen:
Länkar: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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