Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

INTRODUCTION: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The multipl...

Descripción completa

Detalles Bibliográficos
Autores principales: Akyol, Mehmet Umut, Alden, Tord D., Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I., Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I., Jester, Andrea, Jones, Simon A., Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J., Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J., Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian, Scarpa, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567385/
https://www.ncbi.nlm.nih.gov/pubmed/31196221
http://dx.doi.org/10.1186/s13023-019-1074-9

Ejemplares similares

Ejemplares similares