Associated Papers
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.
Severa G et al.
Journal of Neuropathology and Experimental Neurology, 2026
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C et al.
Journal of Inherited Metabolic Disease, 2018
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
Papadopoulos C et al.
Molecular Genetics and Metabolism, 2017
Select a paper to view details