Last Updated: 09/26/2026
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Found 61 publications
Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension study.
Journal: Orphanet journal of rare diseases
Published: November 12, 2025
Clinical Decision Support Aiming to Accelerate Triage and Time to Dextrose-Containing IV Fluids in the ED for Children with Severe Metabolic Conditions.
Journal: Applied clinical informatics
Published: September 11, 2025
Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease.
Journal: Molecular genetics & genomic medicine
Published: April 14, 2025
Targeted questionnaires improve detection of early gastrointestinal symptoms in young children with Fabry disease.
Journal: Orphanet journal of rare diseases
Published: March 18, 2025
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension.
Journal: Molecular genetics and metabolism
Published: October 03, 2024
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 19, 2024
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 24, 2024
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.
Journal: Clinical pharmacokinetics
Published: March 14, 2024
A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies.
Journal: Journal of inherited metabolic disease
Published: February 23, 2024
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.
Journal: Journal of medical genetics
Published: June 02, 2023
Last Updated: 09/26/2026