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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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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Springer Berlin Heidelberg
2011
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| Schlagworte: | |
| Online Zugang: | 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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