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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: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2013
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| Assuntos: | |
| Acesso em linha: | 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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