Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

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 there were 15 people diagnosed with MPS IV. To enhance the knowledge of the disease in the country, we aimed to characteri...

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Bibliographic Details
Main Authors: Lina Johanna Moreno Giraldo, Ángela María Escudero Rodríguez, Adalberto Sánchez Gómez, José María Satizabal Soto
Format: Article
Language:English
Published: Elsevier 2018-09-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426918300338