Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children-Reference-Cited by-同舟云学术

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

Published:2014-09 Issue:1-2 Volume:113 Page:76-83
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Ivanov Ivan S.,Azmanov Dimitar N.,Ivanova Mariya B.,Chamova Teodora,Pacheva Ilyana H.,Panova Margarita V.,Song Sharon,Morar Bharti,Yordanova Ralitsa V.,Galabova Fani K.,Sotkova Iglika G.,Linev Alexandar J.,Bitchev Stoyan,Shearwood Anne-Marie J.,Kancheva Dalia,Gabrikova Dana,Karcagi Veronika,Guergueltcheva Velina,Geneva Ina E.,Bozhinova Veneta,Stoyanova Vili K.,Kremensky Ivo,Jordanova Albena,Savov Aleksey,Horvath Rita,Brown Matthew A.,Tournev Ivailo,Filipovska Aleksandra,Kalaydjieva Luba

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference21 articles.

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3. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients;Patel;Mol. Genet. Metab.,2012

4. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype;DeBrosse;Mol. Genet. Metab.,2012

5. Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis;Barnerias;Dev. Med. Child Neurol.,2010

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