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Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study
(2017-01-01)
Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha- L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and ...
Influencia de YdeM de Escherichia coli en la activación de sulfatasas humanas recombinantes como N-acetilgalactosamina-6-sulfato sulfatasa (GALNS), iduronato-2-sulfato sulfatasa (IDS) y arilsulfatasa A (ARSA)
(Universidad de los AndesIngeniería QuímicaFacultad de IngenieríaDepartamento de Ingeniería Química, 2019)
"Para el presente artículo, se estudia la posibilidad de activación de enzimas sulfatasas de tipo I por medio de la acción de YdeM en la catálisis del residuo activo de cisteína (cis) o serina (ser) a formilglicina (FG). ...
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type ii (hunter syndrome)
(Wiley, 2016)
Background Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. ...
Sanfilippo Type B disease: A diagnostic approach through enzymatic and molecular analysis in Colombia
(Universidad de los AndesMaestría en Ciencias BiológicasFacultad de CienciasDepartamento de Ciencias Biológicas, 2021)
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 ...