Associated Papers
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Porcino M et al.
Neuromuscular Disorders : Nmd, 2025
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
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S et al.
Aging, 2020
Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.
Aung-Htut MT et al.
Scientific Reports, 2020
Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.
Aung-Htut MT et al.
Genes, 2020
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis.
Musumeci O et al.
European Journal of Neurology, 2019
Select a paper to view details