Literature DB >> 9298831

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.

O N Elpeleg1, A Shaag, J Z Glustein, Y Anikster, A Joseph, A Saada.   

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Year:  1997        PMID： 9298831     DOI： 10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  6 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.  Somatic mutations of amino acid metabolism-related genes in gastric and colorectal cancers and their regional heterogeneity--a short report.

Authors:  Hye Rim Oh; Chang Hyeok An; Nam Jin Yoo; Sug Hyung Lee
Journal:  Cell Oncol (Dordr)       Date:  2014-12-02       Impact factor: 6.730

4.  Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.

Authors:  Ngolela Esther Babady; Yuan-Ping Pang; Orly Elpeleg; Grazia Isaya
Journal:  Proc Natl Acad Sci U S A       Date:  2007-04-02       Impact factor: 11.205

Review 5.  Animal models of maple syrup urine disease.

Authors:  K J Skvorak
Journal:  J Inherit Metab Dis       Date:  2009-03-09       Impact factor: 4.982

6.  Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Authors:  Olga Grafakou; Konrad Oexle; Lambert van den Heuvel; Roel Smeets; Frans Trijbels; Hans H Goebel; Nils Bosshard; Andrea Superti-Furga; Beat Steinmann; Jan Smeitink
Journal:  Eur J Pediatr       Date:  2003-08-19       Impact factor: 3.183
  6 in total

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