Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population

Hunter syndrome (Mucopolysaccharidosis type II) is an inherited lysosomal storage disorder with potentially severe degenerative consequences. Clinical diagnosis is not easy, although biochemical confirmation is straightforward, and sometimes patients are diagnosed at a late age. It is widely believe...

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Main Authors: López-Marín, Laura, Gutiérrez-Solana, Luis G., Azuara, Luis Aldamiz-Echevarria, de las Heras, Rogelio Simón, Rodríguez, Anna Duat, Extremera, Verónica Cantarín
Format: Artigo
Sprog:Inglês
Udgivet: Springer Berlin Heidelberg 2013
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755579/
https://ncbi.nlm.nih.gov/pubmed/23430804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_204
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