Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
苹果酸脱氢酶 2 缺乏症是儿童癫痫性脑病的一个新兴病因，具有可识别的生化特征
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.8
doi:10.1016/j.ymgmr.2022.100931
Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves, Ian M Campbell, Sanmati R Cuddapah, Nicole M Engelhardt, Marina Eskandar, Paloma C Jolín García, Andrea Gropman, Ingo Helbig, Xinying Hong, Vykuntaraju K Gowda, Laina Lusk, Pamela Trapane, Varunvenkat M Sriniva
