Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype-Reference-Cited by-同舟云学术

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Published:2012-11 Issue:3 Volume:107 Page:394-402
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

DeBrosse Suzanne D.,Okajima Kazuki,Zhang Shulin,Nakouzi Ghunwa,Schmotzer Christine L.,Lusk-Kopp Marilyn,Frohnapfel Mary Beth,Grahame George,Kerr Douglas S.

Funder

Zachary Foundation

Katie Foundation

Publisher

Elsevier BV

Subject

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

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3. Mutations in iron–sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes;Cameron;Am. J. Hum. Genet.,2011

4. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe–S proteins;Navarro-Sastre;Am. J. Hum. Genet.,2011

5. Assays of pyruvate dehydrogenase complex and pyruvate carboxylase activity;Kerr,2012

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