Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 85 publications
Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.
Journal: Journal of clinical medicine
Published: January 19, 2026
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
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C.
Journal: Journal of inherited metabolic disease
Published: October 31, 2025
Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry.
Journal: Journal of inherited metabolic disease
Published: October 09, 2025
Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.
Journal: Frontiers in pediatrics
Published: April 17, 2025
The clinical utility of neurofilament light chain for early detection and prediction of disease burden and severity in neuronopathic Gaucher disease.
Journal: Molecular genetics and metabolism
Published: April 16, 2025
Age-related inflammatory biomarkers in early-onset osteoporosis in females with Gaucher disease.
Journal: Frontiers in endocrinology
Published: April 04, 2025
Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trials.
Journal: Therapeutic advances in rare disease
Published: March 28, 2025
Correction: Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).
Journal: Journal of neurology
Published: February 17, 2025
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.
Journal: Journal of neurology
Published: February 05, 2025
Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy.
Journal: Cells
Published: January 13, 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
Last Updated: 09/26/2026