An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

por Kim, Jiyoung, Pipitone Dempsey, Angela, Kim, Sun Young, Gunay-Aygun, Meral, Vernon, Hilary J.
Publicado 2022