Literature DB >> 2634350

Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes.

B H Robinson1, K Chun, N Mackay, G Otulakowski, R Petrova-Benedict, H Willard.   

Abstract

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Year:  1989        PMID： 2634350     DOI： 10.1111/j.1749-6632.1989.tb15009.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  17 in total

1.  Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene.

Authors:  H H Dahl; W M Hutchison; Z Guo; S M Forrest; L L Hansen
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

Review 2.  Magnetic resonance imaging in lactic acidosis.

Authors:  M S van der Knaap; C Jakobs; J Valk
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 3.  Disorders of pyruvate carboxylase and the pyruvate dehydrogenase complex.

Authors:  B H Robinson; N MacKay; K Chun; M Ling
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.

Authors:  B H Robinson; N MacKay; R Petrova-Benedict; I Ozalp; T Coskun; P W Stacpoole
Journal:  J Clin Invest       Date:  1990-06       Impact factor: 14.808

Review 5.  Pyruvate dehydrogenase deficiency.

Authors:  G K Brown; L J Otero; M LeGris; R M Brown
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

Review 6.  Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

Authors:  H H Dahl
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

Review 7.  Pyruvate dehydrogenase E1 alpha deficiency.

Authors:  G K Brown
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

8.  Investigation of enzyme defects in children with lactic acidosis.

Authors:  B Merinero; C Pérez-Cerda; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

9.  Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.

Authors:  L L Hansen; G K Brown; D M Kirby; H H Dahl
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

10.  Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.

Authors:  Ruth M Brown; Rosemary A Head; Ivan I Boubriak; James V Leonard; Neil H Thomas; Garry K Brown
Journal:  Hum Genet       Date:  2004-05-11       Impact factor: 4.132
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