Literature DB >> 9686362

Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings.

L De Meirleir1, N Specola, S Seneca, W Lissens.   

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Year:  1998        PMID： 9686362     DOI： 10.1023/a:1005347501111

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  4 in total

1.  Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.

Authors:  W Lissens; L De Meirleir; S Seneca; C Benelli; C Marsac; B T Poll-The; P Briones; W Ruitenbeek; O van Diggelen; D Chaigne; V Ramaekers; I Liebaers
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

Review 2.  Pyruvate dehydrogenase E1 alpha deficiency.

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

3.  E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.

Authors:  G Bonne; C Benelli; L De Meirleir; W Lissens; M Chaussain; M Diry; J P Clot; G Ponsot; V Geoffroy; J P Leroux
Journal:  Pediatr Res       Date:  1993-03       Impact factor: 3.756

4.  Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Authors:  K Chun; N MacKay; R Petrova-Benedict; A Federico; A Fois; D E Cole; E Robertson; B H Robinson
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
  4 in total
  2 in total

Review 1.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2011-10-07       Impact factor: 4.797

2.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2012-07       Impact factor: 4.797
  2 in total

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