Literature DB >> 5277001

Maple syrup urine disease variant--amino acid pattern and problems of treatment during acute attacks.

J Steen-Johnsen, E J Vellan, L R Gjessing.   

Abstract

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Year:  1970        PMID： 5277001     DOI： 10.1111/j.1651-2227.1970.tb14589.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand Suppl        ISSN： 0300-8843


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  2 in total

1.  Evaluation of a heterozygote test for maple syrup urine disease in leucocytes and cultured fibroblasts.

Authors:  U Langenbeck; H W Rüdiger; M Schulze-Schencking; W Keller; D Brackertz; H W Goedde
Journal:  Humangenetik       Date:  1971

2.  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
  2 in total

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