Literature DB >> 14476272

Clinical and biochemical observations on an apparently nonfatal variant of branched-chain ketoaciduria (maple syrup urine disease).

M D MORRIS, B D LEWIS, P D DOOLAN, H A HARPER.   

Abstract

Entities:  

Keywords:  AMINO ACIDS/metabolism; ATAXIA/in infancy and childhood; KETO ACIDS/urine; METABOLIC DISEASES/in infancy and childhood

Mesh：

Substances：

Year:  1961        PMID： 14476272

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


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  8 in total

1.  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

2.  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

Review 3.  [New etiologic approach to periodic ketoacidosis in children].

Authors:  J Boisse
Journal:  Can Med Assoc J       Date:  1971-08-07       Impact factor: 8.262

4.  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

5.  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

6.  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

7.  Variant maple syrup urine disease in mother and daughter.

Authors:  L A Zaleski; J Dancis; R P Cox; J Hutzler; W A Zaleski; A Hill
Journal:  Can Med Assoc J       Date:  1973-08-18       Impact factor: 8.262

8.  Movement disorders in adult surviving patients with maple syrup urine disease.

Authors:  Miryam Carecchio; Susanne A Schneider; Heidi Chan; Robin Lachmann; Philip J Lee; Elaine Murphy; Kailash P Bhatia
Journal:  Mov Disord       Date:  2011-04-11       Impact factor: 10.338
  8 in total

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