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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Vydáno v:BMC Med Genet
Hlavní autoři: Gabrielli, Orazio, Clarke, Lorne A., Ficcadenti, Anna, Santoro, Lucia, Zampini, Lucia, Volpi, Nicola, Coppa, Giovanni V.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785727/
https://ncbi.nlm.nih.gov/pubmed/26965916
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0284-4
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