Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available in the form of enzyme replacement therapy wit...

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Bibliografiska uppgifter
I publikationen:Orphanet J Rare Dis
Huvudupphovsmän: Muenzer, Joseph, Jones, Simon A., Tylki-Szymańska, Anna, Harmatz, Paul, Mendelsohn, Nancy J., Guffon, Nathalie, Giugliani, Roberto, Burton, Barbara K., Scarpa, Maurizio, Beck, Michael, Jangelind, Yvonne, Hernberg-Stahl, Elizabeth, Larsen, Maria Paabøl, Pulles, Tom, Whiteman, David A. H.
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2017
Ämnen:
Review
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5414331/
https://ncbi.nlm.nih.gov/pubmed/28464912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0635-z
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