12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment

BACKGROUND: Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-L-iduronidase and characterized by a progressive course with multisystem involvement. Clinically, Mucopolysaccharidosis type I is classified into two forms: severe (Hurler syndrome), which presents...

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Detalles Bibliográficos
Autores principales: Gabrielli, Orazio, Clarke, Lorne A., Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785727/
https://www.ncbi.nlm.nih.gov/pubmed/26965916
http://dx.doi.org/10.1186/s12881-016-0284-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785727/
https://www.ncbi.nlm.nih.gov/pubmed/26965916
http://dx.doi.org/10.1186/s12881-016-0284-4

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