"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 ch...

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Detalles Bibliográficos
Autores Principales: "Charrow, Joel, Alden, Tord D., Breathnach, Catherine Ann R., Frawley, Geoffrey P., Hendriksz, Christian J., Link, Bianca, Mackenzie, William G., Manara, Renzo, Offiah, Amaka C., Solano, Martha L., Theroux, Mary"
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