Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature - Priestley, Jessica R.C.; Pace, Lisa M.; Sen, Kuntal; Aggarwal, Anjali; Alves, Cesar Augusto P.F.; Campbell, Ian M.; Cuddapah, Sanmati R.; Engelhardt, Nicole M.; Eskandar, Marina; Jolín García, Paloma C.; Gropman, Andrea; Helbig, Ingo; et al. (Molecular genetics and metabolism reports, 2022)
Keywords: Epileptic encephalopathy; Leigh syndrome; Malate dehydrogenase; MDH2; Mitochondrial malate dehydrogenase; Research Paper; TCA cycle; Epileptic encephalopathy; Mitochondrial malate dehydrogenase; Leigh syndrome; Malate dehydrogenase; MDH2; TCA cycle