Last Updated: 09/26/2026
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Found 10 publications
Author Correction: Anakinra in Sanfilippo syndrome: a phase 1/2 trial.
Journal: Nature medicine
Published: July 29, 2024
Anakinra in Sanfilippo syndrome: a phase 1/2 trial.
Journal: Nature medicine
Published: December 06, 2023
Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Journal: Molecular genetics and metabolism
Published: September 30, 2019
Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I.
Journal: Molecular genetics and metabolism
Published: June 13, 2019
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation.
Journal: Molecular genetics and metabolism reports
Published: December 10, 2018
IRF2BPL Is Associated with Neurological Phenotypes.
Journal: American journal of human genetics
Published: May 15, 2018
De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 08, 2018
Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.
Journal: Molecular genetics and metabolism
Published: May 28, 2015
Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I.
Journal: Molecular genetics and metabolism
Published: May 11, 2015
Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients.
Journal: Pediatric research
Published: October 24, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026