Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
编码线粒体柠檬酸载体的 SLC25A1 缺陷导致 D-2- 和 L-2-羟基戊二酸尿症
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.03.009
Benjamin Nota, Eduard A Struys, Ana Pop, Erwin E Jansen, Matilde R Fernandez Ojeda, Warsha A Kanhai, Martijn Kranendijk, Silvy J M van Dooren, Marianna R Bevova, Erik A Sistermans, Aggie W M Nieuwint, Magalie Barth, Tawfeg Ben-Omran, Georg F Hoffmann, Pascale de Lonlay, Marie T McDonald, Alf Meberg,
