Home treatment in paediatric patients with Hunter syndrome: the first Italian experience

Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of glycosaminoglycans, progressive multisystem organ failure, and early death. Enzyme replacemen...

Descripción completa

Detalles Bibliográficos
Autores principales: Ceravolo, Ferdinando, Mascaro, Italia, Sestito, Simona, Pascale, Elisa, Lauricella, Antonino, Dizione, Elio, Concolino, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847888/
https://www.ncbi.nlm.nih.gov/pubmed/24011228
http://dx.doi.org/10.1186/1824-7288-39-53

Ejemplares similares

Ejemplares similares