A close-up view of the Hunter syndrome
The Lysosomal Storage disease known as Mucopolysaccharidosis type II, is caused by mutations affecting the iduronate-2-sulfatase required for heparan and dermatan sulfate catabolism. The central nervous system (CNS) is mostly and severely affected by the accumulation of both substrates. The complexi...
- Autores:
-
Cardona Ramírez, Carolina
Almeciga Diaz, Carlos Javier
Martín, Mercedes
Cardenas, Casimiro
Espejo Mojica, Angela Johana
Lobo, Carolina
Benincore-Flórez, Eliana Patricia
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2024
- Institución:
- Universidad de Ciencias Aplicadas y Ambientales U.D.C.A
- Repositorio:
- Repositorio Institucional UDCA
- Idioma:
- eng
- OAI Identifier:
- oai:repository.udca.edu.co:11158/5553
- Acceso en línea:
- https://repository.udca.edu.co/handle/11158/5553
https://doi.org/10.1016/j.bbrc.2024.149490
- Palabra clave:
- Mucopolisacaridosis II
Espectrometría de Masas
Análisis proteómico
IDS
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by-nc-sa/4.0/legalcode.es