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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Detalles Bibliográficos
Autores principales: Moreno Giraldo, Lina Johanna, Escudero Rodríguez, Ángela María, Sánchez Gómez, Adalberto, Satizabal Soto, José María
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072674/
https://www.ncbi.nlm.nih.gov/pubmed/30094185
http://dx.doi.org/10.1016/j.ymgmr.2018.06.008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072674/
https://www.ncbi.nlm.nih.gov/pubmed/30094185
http://dx.doi.org/10.1016/j.ymgmr.2018.06.008

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