Associated Papers
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning.
van den Dorpel JJA et al.
Journal of Inherited Metabolic Disease, 2024
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
Pfrimmer C et al.
Journal of Neuromuscular Diseases, 2024
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
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
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Brassier A et al.
Molecular Genetics and Metabolism, 2023
Is the brain involved in patients with late-onset Pompe disease?
van den Dorpel JJA et al.
Journal of Inherited Metabolic Disease, 2022
COVID-19 infection in patients with late-onset Pompe disease.
Avelar J et al.
Muscle & Nerve, 2022
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Holzwarth J et al.
Neuropediatrics, 2022
Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.
Claeys KG et al.
Cells, 2022
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.
Wencel M et al.
Neurology. Genetics, 2021
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA et al.
Journal of Human Genetics, 2021
Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.
Saville JT et al.
Metabolites, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
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
Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.
Vaeggemose M et al.
Peerj, 2021
White matter brain lesions in infantile-onset Pompe disease are not metabolically active using 18F-FDG PET/MR imaging.
Claeys KG et al.
Neuromuscular Disorders : Nmd, 2020
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M et al.
Neuropathology and Applied Neurobiology, 2020
Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.
Aung-Htut MT et al.
Scientific Reports, 2020
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Vanherpe P et al.
Orphanet Journal of Rare Diseases, 2020
The First Year Experience of Newborn Screening for Pompe Disease in California.
Tang H 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
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
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
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
A genetic modifier of symptom onset in Pompe disease.
Bergsma AJ et al.
Ebiomedicine, 2019
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C et al.
Journal of Inherited Metabolic Disease, 2018
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Ebbink BJ et al.
Developmental Medicine and Child Neurology, 2018
High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.
Poelman E et al.
The Journal of Pediatrics, 2018
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Löscher WN et al.
Journal of Neurology, 2018
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.
de Vries JM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Masat E et al.
Scientific Reports, 2016
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI et al.
Orphanet Journal of Rare Diseases, 2016
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
Stepien KM et al.
Molecular Genetics and Metabolism, 2016
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A et al.
Journal of Inherited Metabolic Disease, 2016
Lung MRI and impairment of diaphragmatic function in Pompe disease.
Wens SC et al.
Bmc Pulmonary Medicine, 2015
Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.
Horvath JJ et al.
Muscle & Nerve, 2015
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
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
Bergsma AJ et al.
Human Mutation, 2015
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A et al.
Jimd Reports, 2015
B-Cell Depletion is Protective Against Anti-AAV Capsid Immune Response: A Human Subject Case Study.
Corti M et al.
Molecular Therapy. Methods & Clinical Development, 2014
B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.
Elder ME et al.
The Journal of Pediatrics, 2013
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
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
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.
Messinger YH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012