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Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase

Mucopolysaccharidosis type II (MPS II – Hunter syndrome) is a rare X-linked recessive disease of lysosomal glycosaminoglycan metabolism leading to a systemic storage disorder. We report three adult brothers (aged 46–52 years) with attenuated Hunter syndrome after 12 months of enzyme replacement ther...

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Detalhes bibliográficos
Main Authors: Tchan, Michel C., Devine, Kerry T., Sillence, David O.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509811/
https://ncbi.nlm.nih.gov/pubmed/23430829
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_17
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