1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations

Autor: Gropman, Andrea L., Seltzer, Rebecca R., Yudkoff, Marc, Sawyer, Alice, vanMeter, John, Fricke, Stanley T.
Zdroj: In Molecular Genetics and Metabolism 2008 94(1):52-60
Databáze: ScienceDirect