Literature DB >> 9161958

Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency.

I Aptowitzer1, A Saada, J Faber, D Kleid, O N Elpeleg.   

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Year:  1997        PMID： 9161958     DOI： 10.1097/00005176-199705000-00019

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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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.  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

4.  Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.

Authors:  Aviva Fattal-Valevski; Hila Eliyahu; NItai D Fraenkel; Ganit Elmaliach; Moran Hausman-Kedem; Avraham Shaag; Dror Mandel; Ophry Pines; Orly Elpeleg
Journal:  Neurogenetics       Date:  2017-01-05       Impact factor: 2.660

5.  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.  The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia.

Authors:  Anar Alfarsi; Majid Alfadhel; Seham Alameer; Amal Alhashem; Brahim Tabarki; Faroug Ababneh; Ahmed Al Fares; Fuad Al Mutairi
Journal:  Mol Genet Metab Rep       Date:  2021-10-23
  6 in total

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