Associated Papers
Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease.
Huang W et al.
Orphanet Journal of Rare Diseases, 2026
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Boueri M et al.
Molecular Genetics and Metabolism, 2026
Longitudinal characterization of Gaac.1826dupA mouse reveals cardiac, myopathic, biochemical phenotypes of Pompe disease.
Harb JF et al.
Disease Models & Mechanisms, 2026
Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.
Nguyen THT et al.
Future Science Oa, 2025
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
Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population.
Cheah FC et al.
International Journal of Neonatal Screening, 2025
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Omar A et al.
The Malaysian Journal of Pathology, 2025
Efficacy of transitioning from alglucosidase alfa to avalglucosidase alfa in infantile-onset Pompe disease: A single-center cohort analysis.
Chien YH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy.
Martiniuk F et al.
Dna and Cell Biology Reports, 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
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
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
High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.
Jiao K et al.
Journal of Inherited Metabolic Disease, 2025
Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.
Kishnani PS et al.
Frontiers in Immunology, 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
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
Newborn Screening of 6 Lysosomal Storage Disorders by Tandem Mass Spectrometry.
Chen Y et al.
Clinical Pediatrics, 2024
Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.
Muñoz S et al.
Molecular Metabolism, 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
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ et al.
Neuromuscular Disorders : Nmd, 2024
Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.
Yue D et al.
Jimd Reports, 2024
Interplay between mitochondrial dysfunction and lysosomal storage: challenges in genetic metabolic muscle diseases with a focus on infantile onset Pompe disease.
Zhang M et al.
Frontiers in Cardiovascular Medicine, 2024
Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.
Chen HA et al.
Frontiers in Immunology, 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
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
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B et al.
Biomolecules, 2023
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY et al.
Orphanet Journal of Rare Diseases, 2023
Hypertrophy cardiomyopathy: A case of infantile-onset Pompe disease in cardiac magnetic resonance findings.
Zhong Y et al.
Heliyon, 2023
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.
Yang CF et al.
Journal of Medical Genetics, 2023
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease.
Li HY et al.
Bioorganic & Medicinal Chemistry, 2023
Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease.
Hsu YK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Pompe disease in China: clinical and molecular characteristics.
Li J et al.
Frontiers in Cardiovascular Medicine, 2023
CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease.
Kan SH et al.
Scientific Reports, 2022
Enzyme replacement therapy desensitization in a child with infantile onset Pompe disease.
Toh TSW et al.
Asian Pacific Journal of Allergy and Immunology, 2022
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
Retrospective analysis of prenatal ultrasound of children with Pompe disease.
Li YL et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
Late-onset Pompe disease with a novel mutation and a rare phenotype: A case report.
Si X et al.
Cns Neuroscience & Therapeutics, 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
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
Bhatnagar C et al.
Neuromuscular Disorders : Nmd, 2022
Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.
Senarathne UD et al.
Bmj Case Reports, 2022
Airway abnormalities and pulmonary complications in long-term treated late-onset Pompe disease: Diagnostic and interventional by flexible bronchoscopy.
Wang TH et al.
Pediatric Pulmonology, 2022
A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.
Zhu D et al.
Frontiers in Pharmacology, 2022
Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases.
Dong R 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