Last Updated: 09/26/2026
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Found 338 publications
Functional characterization of 42 GAA missense variants using a validated in vitro cellular functional assay.
Journal: Molecular genetics and metabolism
Published: August 04, 2026
Early detection in action: developing and refining newborn screening for Pompe disease in North Carolina.
Journal: Molecular genetics and metabolism
Published: April 06, 2026
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country.
Journal: Indian journal of pediatrics
Published: March 25, 2026
Variability in Liver Disease Progression and Outcomes in Glycogen Storage Disease Type IV.
Journal: Hepatology research : the official journal of the Japan Society of Hepatology
Published: February 17, 2026
Early enzyme replacement therapy in late-onset Pompe disease diagnosed by newborn screening.
Journal: Molecular genetics and metabolism
Published: January 25, 2026
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Journal: Molecular genetics and metabolism
Published: January 21, 2026
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
Author Correction: PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.
Journal: NPJ genomic medicine
Published: December 30, 2025
Burden of disease in US patients with skeletal versus muscular or pain manifestations of hypophosphatasia: An analysis from the Global HPP Registry.
Journal: Bone
Published: December 22, 2025
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.
Journal: Science advances
Published: November 12, 2025
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Journal: Molecular genetics and metabolism
Published: September 10, 2025
Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.
Journal: Frontiers in immunology
Published: August 21, 2025
Last Updated: 09/26/2026