Literature DB >> 7981697

Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.

E Naito1, M Ito, I Yokota, J Matsuda, A Yara, Y Kuroda.   

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Year:  1994        PMID： 7981697     DOI： 10.1093/hmg/3.7.1193

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


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  4 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

3.  Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.

Authors:  Hai-Lin Dong; Yin Ma; Quan-Fu Li; Yi-Chu Du; Lu Yang; Sheng Chen; Zhi-Ying Wu
Journal:  CNS Neurosci Ther       Date:  2018-05-13       Impact factor: 5.243

4.  Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.

Authors:  M Ito; E Naito; I Yokota; E Takeda; J Matsuda; M Hirose; H Sejima; H Aiba; H Hojo; Y Kuroda
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  4 in total

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