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Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls
Mucopolysaccharidosis II (MPS II), or Hunter syndrome, is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2-sulfatase. Affected patients suffer progressive damage to multiple organ systems and early mortality. Two thirds of patients also manifest cognitive impai...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer-Verlag
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306562/ https://www.ncbi.nlm.nih.gov/pubmed/22383073 http://dx.doi.org/10.1007/s00431-012-1703-y |