Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
Glycosaminoglycan metabolism disorders bring together a group of alterations of genetic origin whose effect is the progressive intralysosomal accumulation of GAGs. Affected individuals are compromised in a multisystemic way causing, among other clinical manifestations, coarse facial features, short...
- Autores:
-
Ramírez Borda, Johana Marcela
- Tipo de recurso:
- Fecha de publicación:
- 2021
- Institución:
- Universidad de los Andes
- Repositorio:
- Séneca: repositorio Uniandes
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.uniandes.edu.co:1992/55031
- Acceso en línea:
- http://hdl.handle.net/1992/55031
- Palabra clave:
- Tamizaje selectivo
Valoración
Actividad enzimática
Mucopolisacaridosis
Alpha-iduronidase
Iduronate 2-sulfatase
Alpha-N-acetylglucosaminidase
N-acetylglucosamine-6-sulfate sulfatase
Beta-galactosidase
Arylsulfatase B y Beta-glucuronidase
DBS
Leucocitos
Biología
- Rights
- openAccess
- License
- http://creativecommons.org/licenses/by-nc-sa/4.0/