Associated Papers
Neutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.
García-Moreno MI et al.
European Journal of Medicinal Chemistry, 2026
Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.
Domínguez-González C et al.
Neuromuscular Disorders : Nmd, 2026
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.
Cohen JL et al.
Jimd Reports, 2026
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.
Regmi N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Makhijani N et al.
Molecular Genetics and Metabolism, 2025
Adult Pompe disease: Analysis of 13 patients.
Martín-Jiménez P et al.
Medicina Clinica, 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
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
Martinez-Montoya V et al.
Molecular Genetics & Genomic Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 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
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B et al.
Biomolecules, 2023
Outside the fiber: Endomysial stromal and capillary pathology in skeletal muscle may impede infusion therapy in infantile-onset Pompe disease.
Buckley AF et al.
Journal of Neuropathology and Experimental Neurology, 2023
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Infantile-onset Pompe disease in seven Mexican children.
Sánchez-Sánchez LM et al.
Gaceta Medica De Mexico, 2022
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
Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.
Park KS
Children (basel, Switzerland), 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 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
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
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M et al.
Neuropathology and Applied Neurobiology, 2020
Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.
Khan AA et al.
Journal of Inherited Metabolic Disease, 2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan AA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton BK et al.
International Journal of Neonatal Screening, 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
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
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
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C et al.
Journal of Inherited Metabolic Disease, 2018
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
Al-Hassnan ZN et al.
Molecular Genetics and Metabolism Reports, 2018
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
Fukuhara Y et al.
Molecular Genetics and Metabolism Reports, 2018
Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.
Desai AK et al.
Molecular Genetics and Metabolism, 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
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
Papadopoulos C et al.
Molecular Genetics and Metabolism, 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
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
Figueroa-Bonaparte S et al.
Plos One, 2016
Should patients with asymptomatic pompe disease be treated? A nationwide study in France.
Echaniz-Laguna A et al.
Muscle & Nerve, 2015
Pompe disease: literature review and case series.
Dasouki M et al.
Neurologic Clinics, 2014
Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.
Sacconi S et al.
Neuromuscular Disorders : Nmd, 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
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
Prater SN et al.
Orphanet Journal of Rare Diseases, 2013
Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.
Tan QK et al.
Molecular Genetics and Metabolism, 2013
Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.
Carlier RY et al.
Neuromuscular Disorders : Nmd, 2011