Last Updated: 09/26/2026
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Found 40 publications
Clinical outcome assessments of disease burden and progression in late-onset GM2 gangliosidoses.
Journal: Molecular genetics and metabolism
Published: January 10, 2024
Improved gene therapy for spinal muscular atrophy in mice using codon-optimized hSMN1 transgene and hSMN1 gene-derived promotor.
Journal: EMBO molecular medicine
Published: November 02, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Journal: American journal of medical genetics. Part A
Published: March 23, 2023
Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study.
Journal: Molecular genetics and metabolism reports
Published: October 02, 2022
Plasma glucosylsphingosine correlations with baseline disease burden and response to eliglustat in two clinical trials of previously untreated adults with Gaucher disease type 1.
Journal: Molecular genetics and metabolism
Published: September 19, 2022
Intravenous 2-hydroxypropyl-β-cyclodextrin (Trappsol® Cyclo™) demonstrates biological activity and impacts cholesterol metabolism in the central nervous system and peripheral tissues in adult subjects with Niemann-Pick Disease Type C1: Results of a phase 1 trial.
Journal: Molecular genetics and metabolism
Published: June 08, 2022
How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations.
Journal: Molecular genetics and metabolism
Published: July 08, 2020
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Journal: American journal of medical genetics. Part A
Published: May 01, 2020
Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.
Journal: Orphanet journal of rare diseases
Published: January 06, 2020
Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1.
Journal: Molecular genetics and metabolism reports
Published: December 17, 2019
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1.
Journal: Blood cells, molecules & diseases
Published: April 05, 2019
Last Updated: 09/26/2026