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
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
Body composition and 6 minute walking ability in late-onset pompe disease patients after 9 years of enzyme replacement therapy.
Terzis G et al.
The International Journal of Neuroscience, 2022
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
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.
Papadimas GK et al.
Neuromuscular Disorders : Nmd, 2021
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
Effects of exercise training during infusion on late-onset Pompe disease patients receiving enzyme replacement therapy.
Terzis G 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
Bone density in patients with late onset Pompe disease.
Papadimas G et al.
International Journal of Endocrinology and Metabolism, 2012
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