Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

por Priestley, Jessica R. C., Adang, Laura A., Drewes Williams, Sarah, Lichter-Konecki, Uta, Menello, Caitlin, Engelhardt, Nicole M., DiPerna, James C., DiBoscio, Brenda, Ahrens-Nicklas, Rebecca C., Edmondson, Andrew C., Reynoso Santos, Francis Jeshira, Ficicioglu, Can
Publicado 2022

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

por 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, Hong, Xinying, Gowda, Vykuntaraju K., Lusk, Laina, Trapane, Pamela, Srinivasan, Varunvenkat M., Suwannarat, Pim, Ganetzky, Rebecca D.
Publicado 2022