TY - JOUR AU - Gascón-Bayarri, Jordi AU - Simon, Petru Cristian AU - Llop, Roser AU - Carnaval, Thiago AU - Ledesma, María Dolores AU - Rico, Imma AU - Sánchez-Castañeda, Cristina AU - Campdelacreu-Fumadó, Jaume AU - Calvo-Malvar, Nahum AU - Cos, Mònica AU - de Lama, Eugenia AU - Cortés-Romera, Montserrat AU - Rodríguez-Bel, Laura AU - Pérez-Sousa, Celia AU - Cerdán Sánchez, María AU - Muelas, Nuria AU - Sevillano, María Dolores AU - Mir, Pablo AU - López de Munain, Adolfo AU - Ferrer, Anna AU - Videla, Sebastián PY - 2022 DO - 10.1097/MD.0000000000031471 UR - http://hdl.handle.net/10668/19856 T2 - Medicine AB - 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 accumulation. NPC1 is found in neuronal... LA - en KW - Humans KW - Adult KW - Niemann-Pick Disease, Type C KW - Cognitive Dysfunction TI - Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment. TY - research article VL - 101 ER -