Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

PURPOSE: Abnormalities in cerebrospinal fluid (CSF) have been reported in Hurler syndrome, a fatal neurodegenerative lysosomal disorder. While no biomarker has predicted neurocognitive response to treatment, one of these abnormalities, glycosaminoglycan nonreducing ends (NREs), holds promise to moni...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Eisengart, Julie B., Pierpont, Elizabeth I., Kaizer, Alexander M., Rudser, Kyle D., King, Kelly E., Pasquali, Marzia, Polgreen, Lynda E., Dickson, Patricia I., Le, Steven Q., Miller, Weston P., Tolar, Jakub, Orchard, Paul J., Lund, Troy C.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6831510/
https://ncbi.nlm.nih.gov/pubmed/31019279
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0522-1
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