Publication
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature
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. Srinivasan, Pim Suwannarat, Rebecca D. Ganetzky
Molecular Genetics and Metabolism Reports, December 2022, Elsevier
DOI: 10.1016/j.ymgmr.2022.100931