Literature DB >> 6015521

Intermittent branched-chain ketonuria. Variant of maple-syrup-urine disease.

J Dancis, J Hutzler, T Rokkones.   

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Year:  1967        PMID： 6015521     DOI： 10.1056/NEJM196701122760204

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  17 in total

Review 1.  Diagnosis and management of acute movement disorders.

Authors:  D Dressler; R Benecke
Journal:  J Neurol       Date:  2005-10-10       Impact factor: 4.849

2.  Phenylbutyrate therapy for maple syrup urine disease.

Authors:  Nicola Brunetti-Pierri; Brendan Lanpher; Ayelet Erez; Elitsa A Ananieva; Mohammad Islam; Juan C Marini; Qin Sun; Chunli Yu; Madhuri Hegde; Jun Li; R Max Wynn; David T Chuang; Susan Hutson; Brendan Lee
Journal:  Hum Mol Genet       Date:  2010-11-23       Impact factor: 6.150

3.  Maple syrup urine disease variant: report on an infant.

Authors:  P Koepp; C Rybak; H W Rüdiger; U Wendel
Journal:  Z Kinderheilkd       Date:  1974-02-11

4.  Family with intermittent maple syrup urine disease.

Authors:  H B Valman; A D Patrick; J W Seakins; J W Platt; D Gompertz
Journal:  Arch Dis Child       Date:  1973-03       Impact factor: 3.791

5.  Defective decarboxylase in branched chain ketoacid oxidase multienzyme complex in classic type of maple syrup urine disease.

Authors:  H W Rüdiger; U Langenbeck; M Schulze-Schencking; H W Goedde
Journal:  Humangenetik       Date:  1972

6.  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

7.  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

8.  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

9.  Glucose and alanine metabolism in children with maple syrup urine disease.

Authors:  M W Haymond; E Ben-Galim; K E Strobel
Journal:  J Clin Invest       Date:  1978-08       Impact factor: 14.808

10.  Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.

Authors:  Y Indo; I Akaboshi; Y Nobukuni; F Endo; I Matsuda
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132
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