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

Julie B Eisengart Elizabeth I PierpontAlexander M KaizerKyle D RudserKelly E KingMarzia PasqualiLynda E PolgreenPatricia I DicksonSteven Q LeWeston P MillerJakub TolarPaul J Orchard Troy C Lund

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Intrathecal ERT was safe and, in combination with standard treatment, was associated with reductions in CSF abnormalities. Critically, we report evidence of a link between a biomarker treatment response and neurocognitive outcome in Hurler syndrome.

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