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...

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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
Acceso en línea:https://repository.urosario.edu.co/handle/10336/22616