Associated Papers
Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data.
van der Beek NAME et al.
Current Opinion in Neurology, 2025
Clinical and genetic spectrums of Pompe disease in Duhok city, Kurdistan region, Iraq.
Haleem AA et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2025
Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.
Sciacco M et al.
Frontiers in Genetics, 2025
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G et al.
Orphanet Journal of Rare Diseases, 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
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.
Jackson DG et al.
Molecular Genetics and Metabolism Reports, 2023
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B et al.
Biomolecules, 2023
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
De Filippi P et al.
Current Issues in Molecular Biology, 2023
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
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
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 2021
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Niño MY et al.
European Journal of Human Genetics : Ejhg, 2021
A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.
Bergsma AJ et al.
European Journal of Human Genetics : Ejhg, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.
In 't Groen SLM et al.
Molecular Therapy. Methods & Clinical Development, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Molecular genetics of Pompe disease: a comprehensive overview.
Peruzzo P et al.
Annals of Translational Medicine, 2019
Diagnostic tools in late onset Pompe disease (LOPD).
Musumeci O et al.
Annals of Translational Medicine, 2019
A genetic modifier of symptom onset in Pompe disease.
Bergsma AJ et al.
Ebiomedicine, 2019
Silent but significant - A synonymous SNV alters prognosis in Pompe disease.
Lukas J et al.
Ebiomedicine, 2019
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hermans MM et al.
Human Mutation, 2004