Gascón-Bayarri, Jordi; Simon, Petru-Cristian; Llop, Roser; Carnaval, Thiago; Ledesma, María-Dolores; Rico, Imma; Sánchez-Castañeda, Cristina; Campdelacreu-Fumadó, Jaume; Calvo-Malvar, Nahum; Cos, Mònica; De-Lama, Eugenia; Cortés-Romera, Montserrat; Rodríguez-Bel, Laura; Pérez-Sousa, Celia; Cerdán-Sánchez, María; Muelas, Nuria; Sevillano, María-Dolores; Mir, Pablo; López-De-Munain, Adolfo; Ferrer, Anna; Videla, Sebastián
(Lippincott Williams and Wilkins, 2022)
BACKGROUND: Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol ...