Literature DB >> 5042489

Enzyme activity in classical and variant forms of maple syrup urine disease.

J Dancis, J Hutzler, S E Snyderman, R P Cox.   

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Year:  1972        PMID： 5042489     DOI： 10.1016/s0022-3476(72)80301-9

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


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  25 in total

1.  Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.

Authors:  Y Nobukuni; H Mitsubuchi; K Ohta; I Akaboshi; Y Indo; F Endo; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Maple syrup urine disease: clinical and biochemical significance of gene analysis.

Authors:  Y Nobukuni; H Mitsubuchi; I Akaboshi; Y Indo; F Endo; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

3.  Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects.

Authors:  K Tanaka; R Mandell; V E Shih
Journal:  J Clin Invest       Date:  1976-07       Impact factor: 14.808

4.  Evaluation of branched-chain amino acid intake in children with maple syrup urine disease and methylmalonic aciduria.

Authors:  H G Parsons; R J Carter; M Unrath; F F Snyder
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

5.  Organic acids and branched-chain amino acids in body fluids before and after multiple exchange transfusions in maple syrup urine disease.

Authors:  Y Shigematsu; K Kikuchi; T Momoi; M Sudo; Y Kikawa; K Nosaka; M Kuriyama; S Haruki; K Sanada; N Hamano
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

6.  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

7.  Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.

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

8.  Maple syrup urine disease: treatment of the acutely ill newborn.

Authors:  G Hammersen; L Wille; H Schmidt; P Lutz; H Bickel
Journal:  Eur J Pediatr       Date:  1978-10-12       Impact factor: 3.183

9.  Normal 2-aminobutyrate oxidation and increased valine oxidation in fibroblasts deficient in pyruvate dehydrogenase.

Authors:  O Borud; J E Pettersen
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

10.  Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

Authors:  Y Indo; A Kitano; F Endo; I Akaboshi; I Matsuda
Journal:  J Clin Invest       Date:  1987-07       Impact factor: 14.808
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