Literature DB >> 914742

Maple syrup urine disease. Thiamin responsive branched chain aminoaciduria: a unique case in an adult: (case report).

V Kannan, K Subramanyam.   

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Year:  1977        PMID： 914742

Source DB:  PubMed          Journal:  J Assoc Physicians India        ISSN： 0004-5772


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  1 in total

1.  Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.

Authors:  D T Chuang; L S Ku; R P Cox
Journal:  Proc Natl Acad Sci U S A       Date:  1982-05       Impact factor: 11.205
  1 in total

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