Zobrazeno 1 - 2
of 2
pro vyhledávání: '"María García-Morant"'
Autor:
Canals, Noelia Benetó, Monica Cozar, Laura Castilla-Vallmanya, Oskar G. Zetterdahl, Madalina Sacultanu, Eulalia Segur-Bailach, María García-Morant, Antonia Ribes, Henrik Ahlenius, Daniel Grinberg, Lluïsa Vilageliu, Isaac
Publikováno v:
Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 644
Sanfilippo syndrome type C (mucopolysaccharidosis IIIC) is an early-onset neurodegenerative lysosomal storage disorder, which is currently untreatable. The vast majority of studies focusing on disease mechanisms of Sanfilippo syndrome were performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::612bd0617d2f4cc750ee58421f82e175
Autor:
Daniel Grinberg, María García-Morant, Edgar Creus-Bachiller, Isaac Canals, Noelia Benetó, Mónica Cozar, Lluïsa Vilageliu
Publikováno v:
Stem Cell Research. 41:101616
Sanfilippo C syndrome (Mucopolysaccharidosis IIIC) is a rare lysosomal storage disorder caused by mutations in the HGSNAT gene. It is characterized by a progressive and severe neurodegeneration, for which there is no treatment available. Here, we rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a799264443e37b82554b6f028fc36e1
https://doi.org/10.1016/j.scr.2019.101616
https://doi.org/10.1016/j.scr.2019.101616