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Quoted phrase not found in phrase index: "Maple syrup urine disease, thiamine-responsive, type II"
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E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
Chuang JL, Cox RP, Chuang DT. Chuang JL, et al. J Clin Invest. 1997 Aug 1;100(3):736-44. doi: 10.1172/JCI119586. J Clin Invest. 1997. PMID: 9239422 Free PMC article.
Maple syrup urine disease (MSUD) or branched-chain alpha-ketoaciduria is an autosomally inherited disorder in the catabolism of branched-chain amino acids leucine, isoleucine, and valine. ...Our results depict heretofore undescribed splicing errors cau …
Maple syrup urine disease (MSUD) or branched-chain alpha-ketoaciduria is an autosomally inherited disorder in th …
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.
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. ...When assaye …
The biochemical basis for the therapeutic effects of thiamin in thiamin-responsive maple-syrup-urine disease …
Oral L-alloisoleucine loading studies in healthy subjects and in patients with maple syrup urine disease.
Schadewaldt P, Dalle-Feste C, Langenbeck U, Wendel U. Schadewaldt P, et al. Pediatr Res. 1991 Nov;30(5):430-4. doi: 10.1203/00006450-199111000-00007. Pediatr Res. 1991. PMID: 1754297
Total body and renal elimination of L-alloisoleucine was assessed after oral loads (0.57 mmol/kg body wt) in four healthy subjects and in five patients with maple syrup urine disease (MSUD) of different degrees of severity. ...In the MSUD patients, it …
Total body and renal elimination of L-alloisoleucine was assessed after oral loads (0.57 mmol/kg body wt) in four healthy subjects and in fi …