Eliglustat substrate reduction therapy in children with Gaucher disease type 1
Ain N, Saith A, Ruan A, Yang R, Burton A, Mistry P. Eliglustat substrate reduction therapy in children with Gaucher disease type 1. Frontiers In Pediatrics 2025, 13: 1543136. PMID: 40083427, PMCID: PMC11903696, DOI: 10.3389/fped.2025.1543136.Peer-Reviewed Original ResearchEnzyme replacement therapySubstrate reduction therapyGD1 patientsPediatric patientsReduction therapyOral substrate reduction therapyPrimary outcomeAlternative to enzyme replacement therapyIntravenous enzyme replacement therapyLevels compared to baselineGaucher disease type 1Indicator of disease activityParent-reported qualityCYP2D6 metabolizer statusRare lysosomal storage disorderProspective case seriesGaucher diseaseType 1 Gaucher diseaseQuality of lifeDisease indicationsLysosomal storage disorderPROMIS questionnairesReplacement therapyCase seriesClinical benefit
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply