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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6541999/
https://ncbi.nlm.nih.gov/pubmed/31142378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1080-y
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