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...

Full description

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/