Last Updated: 09/26/2026
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Found 15 publications
Strategy for Generating Blinded Evidence for Single-Arm Trials with External Controls Using Expert Review of Home Video.
Journal: Therapeutic innovation & regulatory science
Published: May 02, 2023
Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes.
Journal: Molecular genetics and metabolism
Published: October 01, 2021
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.
Journal: Molecular genetics and metabolism
Published: October 01, 2021
Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses.
Journal: Molecular genetics and metabolism
Published: April 15, 2021
The juvenile gangliosidoses: A timeline of clinical change.
Journal: Molecular genetics and metabolism reports
Published: November 02, 2020
Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome.
Journal: Molecular genetics and metabolism reports
Published: January 21, 2020
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
The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome.
Journal: Molecular genetics and metabolism reports
Published: August 31, 2019
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 14, 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
Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I.
Journal: Neurology
Published: March 23, 2018
Infantile gangliosidoses: Mapping a timeline of clinical changes.
Journal: Molecular genetics and metabolism
Published: February 20, 2017
Last Updated: 09/26/2026