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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2018-09-01
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Series: | Molecular Genetics and Metabolism Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426918300338 |