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

Autor: DeBrosse, Suzanne D., Okajima, Kazuki, Zhang, Shulin, Nakouzi, Ghunwa, Schmotzer, Christine L., Lusk-Kopp, Marilyn, Frohnapfel, Mary Beth, Grahame, George, Kerr, Douglas S.
Zdroj: In Molecular Genetics and Metabolism November 2012 107(3):394-402
Databáze: ScienceDirect