Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients-Reference-Cited by-同舟云学术

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Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients

Published:2012-10 Issue:10 Volume:55 Page:535-540
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Tajir Mariam,Arnoux Jean Baptiste,Boutron Audrey,Elalaoui Siham Chafai,De Lonlay Pascale,Sefiani Abdelaziz,Brivet Michèle

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference17 articles.

1. Pyruvate dehydrogenase deficiency;Brown;J. Med. Genet.,1994

2. Lactic acidemia (disorders of pyruvate carboxylase, pyruvate dehydrogenase);Robinson,1995

3. Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia;Robinson;J. Clin. Invest.,1990

4. Pyruvate dehydrogenase deficiency as a result of splice site mutation in the PDX1 gene;Dey;Mol. Genet. Metab.,2002

5. Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy;Marsac;J. Pediatr.,1993

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