Associated Papers
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.
Severa G et al.
Journal of Neuropathology and Experimental Neurology, 2026
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Makhijani N et al.
Molecular Genetics and Metabolism, 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
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
[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo].
Flores-Gonzale A et al.
Revista Medica Del Instituto Mexicano Del Seguro Social, 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
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.
Hannah WB et al.
Jimd Reports, 2023
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M et al.
Genome Biology, 2023
Macroglossia: A potentially severe complication of late-onset Pompe disease.
Dupé C et al.
European Journal of Neurology, 2022
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
Bhatnagar C et al.
Neuromuscular Disorders : Nmd, 2022
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Goomber S et al.
Frontiers in Genetics, 2022
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA et al.
Journal of Human Genetics, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
Gal A et al.
Life (basel, Switzerland), 2021
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Hernández-Arévalo P et al.
Orphanet Journal of Rare Diseases, 2021
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.
Papadimas GK et al.
Neuromuscular Disorders : Nmd, 2021
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S et al.
Aging, 2020
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
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M et al.
Neuropathology and Applied Neurobiology, 2020
Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.
ElMallah MK et al.
Pediatric Pulmonology, 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
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño MY et al.
Human Mutation, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Desai AK et al.
Molecular Genetics and Metabolism Reports, 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
Follow-up analysis of voice quality in patients with late-onset Pompe disease.
Szklanny K et al.
Orphanet Journal of Rare Diseases, 2018
Pompe Disease: From Basic Science to Therapy.
Kohler L et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.
Hensel O et al.
Orphanet Journal of Rare Diseases, 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
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 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
Analysis of voice quality in patients with late-onset Pompe disease.
Szklanny K et al.
Orphanet Journal of Rare Diseases, 2016
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI et al.
Orphanet Journal of Rare Diseases, 2016
Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease.
Różdżyńska-Świątkowska A et al.
Jimd Reports, 2016
Successful combined liver/kidney transplantation from a donor with Pompe disease.
Halldorson J et al.
Molecular Genetics and Metabolism, 2015
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
Defects in calcium homeostasis and mitochondria can be reversed in Pompe disease.
Lim JA et al.
Autophagy, 2015
Glycogenosome accumulation in the arrector pili muscle in Pompe disease.
Katona I et al.
Orphanet Journal of Rare Diseases, 2014
Effects of immune modulation therapy in the first Croatian infant diagnosed with Pompe disease: a 3-year follow-up study.
Markic J et al.
Wiener Klinische Wochenschrift, 2014
Enzyme replacement therapy and antibodies in late-onset Pompe disease.
Schneider I et al.
Molecular Genetics and Metabolism Reports, 2014