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...

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Detalles Bibliográficos
Autores principales: Burton, Barbara K., Giugliani, Roberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2012
Materias:
Review
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

Internet

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

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