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
Effects of enzyme replacement therapy on bone density in late onset Pompe disease.
Avanti M et al.
Molecular Genetics and Metabolism, 2023
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Ditters IAM et al.
Biomolecules, 2023
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
Bhatnagar C et al.
Neuromuscular Disorders : Nmd, 2022
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Li C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.
Desai AK et al.
Frontiers in Immunology, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.
Alandy-Dy J et al.
Annals of Translational Medicine, 2019
A genetic modifier of symptom onset in Pompe disease.
Bergsma AJ et al.
Ebiomedicine, 2019
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Löscher WN et al.
Journal of Neurology, 2018
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI et al.
Orphanet Journal of Rare Diseases, 2016
Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants.
Vill K et al.
Neuromuscular Disorders : Nmd, 2015
Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.
Hundsberger T et al.
Journal of Neurology, 2014
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Herzog A et al.
Orphanet Journal of Rare Diseases, 2012
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.
van Capelle CI et al.
Neuromuscular Disorders : Nmd, 2010
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Lukacs Z et al.
Journal of Inherited Metabolic Disease, 2010
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008