Associated Papers
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
33717985 (PubMed )
Supplement: mmc1.xlsx › Table_S1
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
29061980 (PubMed )
Supplement: 41467_2017_1263_MOESM1_ESM.pdf
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
van der Beek NA et al.
Orphanet Journal of Rare Diseases, 2012
Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Wens SC et al.
Molecular Genetics and Metabolism, 2012
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M et al.
Human Mutation, 2012
Hearing in adults with Pompe disease.
van der Beek NA et al.
Journal of Inherited Metabolic Disease, 2012
Select a paper to view details