An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
D-2- 和 L-2-羟基戊二酸尿症的概述:CIC 变体的功能分析
期刊:Journal of Inherited Metabolic Disease
影响因子:4.2
doi:10.1007/s10545-017-0106-7
Ana Pop, Monique Williams, Eduard A Struys, Magnus Monné, Erwin E W Jansen, Anna De Grassi, Warsha A Kanhai, Pasquale Scarcia, Matilde R Fernandez Ojeda, Vito Porcelli, Silvy J M van Dooren, Pascal Lennertz, Benjamin Nota, Jose E Abdenur, David Coman, Anibh Martin Das, Areeg El-Gharbawy, Jean-Marc N