Associated Papers
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
Physical training and high-protein diet improved muscle strength, parent-reported fatigue, and physical quality of life in children with Pompe disease.
Scheffers LE et al.
Journal of Inherited Metabolic Disease, 2023
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
van Kooten HA et al.
Orphanet Journal of Rare Diseases, 2022
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA et al.
Journal of Human Genetics, 2021
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
Thuriot F et al.
Journal of Clinical Medicine, 2021
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Vanherpe P et al.
Orphanet Journal of Rare Diseases, 2020
Infantile onset Pompe disease presenting with non-immune hydrops fetalis.
Lee K et al.
Molecular Genetics and Metabolism Reports, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 2019
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
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Ebbink BJ et al.
Developmental Medicine and Child Neurology, 2018
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
Chen X et al.
Genetic Testing and Molecular Biomarkers, 2017
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N et al.
Clinical Chemistry, 2017
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
van Gelder CM et al.
Journal of Inherited Metabolic Disease, 2015
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
de Vries JM 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
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Sugawara K et al.
Journal of Human Genetics, 2009
Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
van der Beek NA et al.
Journal of the Neurological Sciences, 2008
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
Van den Hout JM et al.
Pediatrics, 2004