Associated Papers
Metabolic and proteomic profiles provide insights on mechanism of late onset Pompe disease.
Lu Y et al.
Molecular Genetics and Metabolism, 2025
A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.
Zhu D et al.
Frontiers in Pharmacology, 2022
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
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Vanherpe P et al.
Orphanet Journal of Rare Diseases, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
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