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Hunter syndrome follow-up after 1 year of enzyme-replacement therapy

Mucopolysaccharidosis II (Hunter syndrome) is a rare x-linked disorder caused by a deficiency in the lysosomal enzyme iduronate-2-sulphatase, leading to an accumulation of the glycosaminoglycans (GAGs) dermatansulphate and heparan sulphate. The consequence of GAGs accumulation is progressive, multio...

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Bibliografiske detaljer
Main Authors: Puiu, Maria, Chiriţă-Emandi, Adela, Dumitriu, Simona, Arghirescu, Smaranda
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 2013
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3603921/
https://ncbi.nlm.nih.gov/pubmed/23307460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007644
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