Literature DB >> 4342010

Classical maple syrup urine disease: cofactor resistance.

L J Elsas, B A Pask, F B Wheeler, D P Perl, S Truster.   

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Year:  1972        PMID: 4342010     DOI: 10.1016/0026-0495(72)90027-3

Source DB:  PubMed          Journal:  Metabolism        ISSN: 0026-0495            Impact factor:   8.694


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  4 in total

1.  Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.

Authors:  Y Jinno; I Akaboshi; I Matsuda
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

2.  Mild variant of maple syrup urine disease.

Authors:  S Kodama; A Seki; M Hanabusa; Y Morisita; T Sakurai
Journal:  Eur J Pediatr       Date:  1976-12-09       Impact factor: 3.183

3.  Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line.

Authors:  R S Eisenstein; G Hoganson; R H Miller; A E Harper
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

4.  Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.

Authors:  D J Danner; N Armstrong; S C Heffelfinger; E T Sewell; J H Priest; L J Elsas
Journal:  J Clin Invest       Date:  1985-03       Impact factor: 14.808

  4 in total

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