Literature DB >> 5431474

A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.

J D Schulman, T J Lustberg, J L Kennedy, M Museles, J E Seegmiller.   

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Year:  1970        PMID： 5431474     DOI： 10.1016/s0002-9343(70)80121-8

Source DB:  PubMed          Journal:  Am J Med        ISSN： 0002-9343            Impact factor:   4.965


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  15 in total

1.  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

Review 2.  Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.

Authors:  J E Seegmiller
Journal:  Ann Rheum Dis       Date:  1980-04       Impact factor: 19.103

Review 3.  Food intolerance in humans.

Authors:  R H Herman; L Hagler
Journal:  West J Med       Date:  1979-02

4.  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

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.  Renal phosphate and bicarbonate wastage in diabetic keto-acidosis.

Authors:  F P Muldowney; R T Gibney; S Darby
Journal:  Ir J Med Sci       Date:  1980-09       Impact factor: 1.568

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.  Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts.

Authors:  S D Skaper; D P Molden; J E Seegmiller
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890

10.  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
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