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Quoted phrase not found in phrase index: "Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts"
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Phenylbutyrate therapy for maple syrup urine disease.
Brunetti-Pierri N, Lanpher B, Erez A, Ananieva EA, Islam M, Marini JC, Sun Q, Yu C, Hegde M, Li J, Wynn RM, Chuang DT, Hutson S, Lee B. Brunetti-Pierri N, et al. Hum Mol Genet. 2011 Feb 15;20(4):631-40. doi: 10.1093/hmg/ddq507. Epub 2010 Nov 23. Hum Mol Genet. 2011. PMID: 21098507 Free PMC article. Clinical Trial.
Based on this clinical observation, we investigated the potential of phenylbutyrate treatment to lower BCAA and their corresponding alpha-keto acids (BCKA) in patients with classic and variant late-onset forms of maple syrup urine disease (MSUD). ...In vivo p …
Based on this clinical observation, we investigated the potential of phenylbutyrate treatment to lower BCAA and their corresponding …
Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
Chuang DT, Ku LS, Cox RP. Chuang DT, et al. Proc Natl Acad Sci U S A. 1982 May;79(10):3300-4. doi: 10.1073/pnas.79.10.3300. Proc Natl Acad Sci U S A. 1982. PMID: 6954481 Free PMC article.
Decarboxylation of alpha-keto[1-14C]isovalerate (KIV) by intact cells from a thiamin-responsive MSUD patient was at 30-40% of the normal rate with or without thiamin in the incubation medium. Under similar conditions, intact classical MSUD fibroblasts failed …
Decarboxylation of alpha-keto[1-14C]isovalerate (KIV) by intact cells from a thiamin-responsive MSUD patient was at 30-40% of …
Biochemical basis of thiamin-responsive maple syrup urine disease.
Chuang DT, Ku LS, Cox RP. Chuang DT, et al. Trans Assoc Am Physicians. 1982;95:196-204. Trans Assoc Am Physicians. 1982. PMID: 7182976
The biochemical basis for the therapeutic effects of thiamin in thiamin-responsive MSUD was investigated in intact and disrupted fibroblast cultures from normal subjects and patients with various forms of MSUD. ...These findings demonstrate that the primary defect i …
The biochemical basis for the therapeutic effects of thiamin in thiamin-responsive MSUD was investigated in intact and disrupted fibrobla …