Literature DB >> 7545958

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.

L L Hansen1, N Horn, H H Dahl, T A Kruse.   

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Year:  1994        PMID： 7545958     DOI： 10.1093/hmg/3.6.1021

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  5 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

Review 3.  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

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

5.  Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.

Authors:  Ali Al Kaissi; Herbert Kurz; Wolfgang Bock; Gerald Pärtan; Klaus Klaushofer; Rudolf Ganger; Franz Grill
Journal:  Case Rep Orthop       Date:  2014-01-29
  5 in total

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