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

INTRODUCTION: Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team...

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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:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6541999/
https://www.ncbi.nlm.nih.gov/pubmed/31142378
http://dx.doi.org/10.1186/s13023-019-1080-y