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_S3
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA et al.
Journal of Human Genetics, 2021
Chagasic cardiomyopathy and Pompe disease: case report.
de Morais RO et al.
American Journal of Cardiovascular Disease, 2018
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
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