Colombia is a country located in the northwest corner of South America (Fig. 1). Initially
founded in 1717 as the Viceroyalty of New Grenada, it underwent many transitions in its …

Background As mucopolysaccharidosis IVA (MPS IVA) is the most frequent MPS in
Colombia, this paper aims to describe its clinical and mutational characteristics in 32 …

The authors briefly describe their work in the construction of viral derived vectors for the use
in gene therapy of muchopolysaccharide storage diseases (MPS), especially in Morquio A …

Mucopolysaccharidoses (MPSs) are a group of genetic alterations whose effect is the
progressive intralysosomal accumulation of glycosaminoglycans. Affected individuals are …

Mucopolysaccharidosis type III, or Sanfilippo syndrome, is an autosomal recessive disorder
characterized by impairment in the degradation of Heparan sulfate. Here the authors …

A study published in 2012 estimated incidence of MPS IVA, in 0.68 cases per 100, 000 live
births in Colombia, and according to the Colombian Fund for High-Cost Diseases, in 2014 …

Abstract Background: Mucopolysaccharidosis type II (MPSII), also known as Hunter
syndrome, is an X-linked disorder caused by mutations in the iduronate 2 sulfatase (IDS) …

Resumen Introducción En Colombia, las personas con enfermedades raras se enfrentan a
múltiples barreras para acceder a los servicios de salud. La Asociación Colombiana de …

La mucopolisacaridosis tipo IV-A es un trastorno de almacenamiento lisosómico poco
frecuente, cuya manifestación clínica más evidente es la disostosis múltiple. Alteraciones …

La Mucopolisacaridosis (MPS) tipo III o Síndrome de Sanfilippo, es una enfermedad
huérfana que hace parte de los trastornos lisosomales por errores innatos del metabolismo …