Last Updated: 09/26/2026
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Found 91 publications
Experiences and treatment perspectives of adolescents and young adults with achondroplasia and caregivers: a qualitative interview study.
Journal: Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation
Published: November 26, 2025
Expert opinion on facilitating intrafamily communication in rare diseases-Lessons from Fabry disease.
Journal: Genetics in medicine open
Published: September 16, 2025
Pharmacodynamics, Safety, and Tolerability of Pyridostigmine Bromide in Heart Failure.
Journal: Current therapeutic research, clinical and experimental
Published: August 06, 2025
Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry.
Journal: Journal of neurology
Published: July 31, 2025
Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.
Journal: BMC cardiovascular disorders
Published: July 29, 2025
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease.
Journal: Journal of neuromuscular diseases
Published: May 21, 2025
Corrigendum to "Pompe disease: Unmet needs and emerging therapies" [Mol Genet Metab. 2024 Nov;143(3):108590].
Journal: Molecular genetics and metabolism
Published: March 11, 2025
Clinical burden and healthcare resource utilization associated with achondroplasia: a real-world observational, retrospective cohort study.
Journal: Orphanet journal of rare diseases
Published: January 30, 2025
Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late-Onset Pompe Disease: A Post Hoc Analysis From the COMET Trial.
Journal: JIMD reports
Published: January 23, 2025
Clinical insight meets scientific innovation to develop a next generation ERT for Pompe disease.
Journal: Molecular genetics and metabolism
Published: June 03, 2024
Pompe disease: Unmet needs and emerging therapies.
Journal: Molecular genetics and metabolism
Published: May 09, 2024
Last Updated: 09/26/2026