Literature DB >> 430308

Thiamine-responsive intermittent branched-chain ketoaciduria.

S M Pueschel, M J Bresnan, V E Shih, H L Levy.   

Abstract

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Year:  1979        PMID： 430308     DOI： 10.1016/s0022-3476(79)80036-0

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  3 in total

1.  Direct physical evidence for stabilization of branched-chain alpha-ketoacid dehydrogenase by thiamin pyrophosphate.

Authors:  S C Heffelfinger; E T Sewell; L J Elsas; D J Danner
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025

2.  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.

Authors:  J L Chuang; R P Cox; D T Chuang
Journal:  J Clin Invest       Date:  1997-08-01       Impact factor: 14.808

Review 3.  Thiamine-responsive inborn errors of metabolism.

Authors:  M Duran; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  3 in total

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