Associated Papers
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.
Carter C et al.
Frontiers in Genetics, 2024
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A et al.
Molecular Genetics and Metabolism Reports, 2023
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
34220802 (PubMed )
Supplement: DataSheet_1.pdf
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 2020
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
Hall PL et al.
International Journal of Neonatal Screening, 2020
Lessons Learned from Pompe Disease Newborn Screening and Follow-up.
Klug TL et al.
International Journal of Neonatal Screening, 2020
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31086307 (PubMed )
Supplement: 41436_2019_527_MOESM5_ESM.docx
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
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
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
Niño MY et al.
Jimd Reports, 2013
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