Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome
Mucopolysaccharidosis IVA is an autosomal recessive condition caused by mutations in the GALNS gene, which encodes N-acetylgalactosamine-6-sulfatase, also called galactosamine-6-sulfatase (GALNS). A reduction in or absence of effective GALNS leads to faulty catabolism of keratan sulfate and chondroi...
Autores Principales: | , , , , , , , , , , |
---|---|
Formato: | Artículo (Article) |
Lenguaje: | Inglés (English) |
Publicado: |
Academic Press Inc.
2015
|
Materias: | |
Acceso en línea: | https://repository.urosario.edu.co/handle/10336/22616 https://doi.org/10.1016/j.ymgme.2014.10.010 |