Associated Papers
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
40225932 (PubMed )
Supplement: 6248437.f2.xlsx › Supplementary_Table_S4
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Brassier A et al.
Molecular Genetics and Metabolism, 2023
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C et al.
Journal of Inherited Metabolic Disease, 2018
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