Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Celia Pérez-Sousa"'
Autor:
Jordi Gascón-Bayarri, Petru Cristian Simon, Roser Llop, Thiago Carnaval, María Dolores Ledesma, Imma Rico, Cristina Sánchez-Castañeda, Jaume Campdelacreu-Fumadó, Nahum Calvo-Malvar, Mònica Cos, Eugenia de Lama, Montserrat Cortés-Romera, Laura Rodríguez-Bel, Celia Pérez-Sousa, María Cerdán Sánchez, Nuria Muelas, María Dolores Sevillano, Pablo Mir, Adolfo López de Munain, Anna Ferrer, Sebastián Videla
[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 accumulation. NPC1 is found i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a04d0315f0d7d73f664a47faca42569
http://hdl.handle.net/10810/59488
http://hdl.handle.net/10810/59488
Autor:
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
Publikováno v:
Medicine; 12/2/2022, Vol. 101 Issue 48, pe31471-e31471, 1p