Associated Papers
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Boueri M et al.
Molecular Genetics and Metabolism, 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
Integrating enzyme assay and molecular genetic testing for early diagnosis of infantile-onset Pompe disease: A case report.
Sharma A et al.
Molecular Genetics and Metabolism Reports, 2025
An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease.
Leo F et al.
Italian Journal of Pediatrics, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
Current and Emerging Therapies for Lysosomal Storage Disorders.
Abelleyra Lastoria DA et al.
Drugs, 2025
Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.
Hussein MA et al.
Italian Journal of Pediatrics, 2025
Sensory neuropathy in patients with Pompe disease: a case series in Iran.
Babaee M et al.
Bmc Musculoskeletal Disorders, 2024
Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.
Fares AH et al.
Molecular Genetics and Metabolism Reports, 2024
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
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.
Castellar-Leones SM et al.
Journal of Medical Case Reports, 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
Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells.
Christensen CL et al.
Molecular Therapy. Nucleic Acids, 2024
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ et al.
Neuromuscular Disorders : Nmd, 2024
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B 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
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
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
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.
Gragnaniello V et al.
Journal of Clinical Medicine, 2023
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
The Clinical Management of Pompe Disease: A Pediatric Perspective.
Marques JS
Children (basel, Switzerland), 2022
[Late onset Pompe disease: an analysis of 19 patients from Mexico].
Sánchez-Sánchez LM et al.
Revista De Neurologia, 2022
A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation.
Curelaru S et al.
Molecular Genetics and Metabolism Reports, 2022
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
Classic infantile-onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study.
Cerón-Rodríguez M et al.
Molecular Genetics & Genomic Medicine, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
Isogenic GAA-KO Murine Muscle Cell Lines Mimicking Severe Pompe Mutations as Preclinical Models for the Screening of Potential Gene Therapy Strategies.
Aguilar-González A et al.
International Journal of Molecular Sciences, 2022
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
The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Tocan V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Case Report: Identification of Compound Heterozygous Mutations in a Patient With Late-Onset Glycogen Storage Disease Type II (Pompe Disease).
Zhang H et al.
Frontiers in Neurology, 2022
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.
Starosta RT et al.
Frontiers in Pediatrics, 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
Induced pluripotent stem cell for modeling Pompe disease.
Huang W et al.
Frontiers in Cardiovascular Medicine, 2022
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.
Wencel M et al.
Neurology. Genetics, 2021
Pharmacological Chaperone Therapy for Pompe Disease.
Borie-Guichot M et al.
Molecules (basel, Switzerland), 2021
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 2021
Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease.
Bar-Yoseph R et al.
Journal of Personalized Medicine, 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
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
Wang J et al.
Communications Biology, 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
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021