Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Eulalia Segur-Bailach"'
Autor:
Anna Mateu-Bosch, Eulàlia Segur-Bailach, Emma Muñoz-Moreno, María José Barallobre, Maria Lourdes Arbonés, Sabrina Gea-Sorlí, Frederic Tort, Antonia Ribes, Judit García-Villoria, Cristina Fillat
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 3, Pp 101276- (2024)
Glutaric aciduria type 1 (GA1) is a rare inherited metabolic disorder caused by a deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), with accumulation of neurotoxic metabolites, resulting in a complex movement disorder, irreversible brain damage
Externí odkaz:
https://doaj.org/article/592b220094f1481fa456c9ea81e1525a
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