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
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease.
Makhijani N et al.
Molecular Genetics and Metabolism, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
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
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease.
Zhao Y et al.
Orphanet Journal of Rare Diseases, 2024
Mitochondrial dysfunction is associated with hypertrophic cardiomyopathy in Pompe disease-specific induced pluripotent stem cell-derived cardiomyocytes.
Huang W et al.
Cell Proliferation, 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
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
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
Pompe disease in China: clinical and molecular characteristics.
Li J et al.
Frontiers in Cardiovascular Medicine, 2023
Generation of two heterozygous GAA mutation-carrying human induced pluripotent stem cell lines (XACHi005-A, XACHi006-A) from parents of an infant with Pompe disease.
Huang W et al.
Stem Cell Research, 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
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China.
Jian M et al.
Clinical and Translational Medicine, 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
High-risk screening of late-onset Pompe disease: A different early portrait in China.
Jiao K et al.
Frontiers in Neurology, 2022
Infantile-onset Pompe disease in seven Mexican children.
Sánchez-Sánchez LM et al.
Gaceta Medica De Mexico, 2022
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
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.
Carlson-Stevermer J et al.
Nature Communications, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 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
Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.
Zhang Y et al.
Stem Cell Research, 2019
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
Molecular genetics of Pompe disease: a comprehensive overview.
Peruzzo P et al.
Annals of Translational Medicine, 2019
Characteristics of Pompe disease in China: a report from the Pompe registry.
Zhao Y et al.
Orphanet Journal of Rare Diseases, 2019
Follow-up analysis of voice quality in patients with late-onset Pompe disease.
Szklanny K et al.
Orphanet Journal of Rare Diseases, 2018
Late-onset pompe disease in Iran: A clinical and genetic report.
Nazari F et al.
Muscle & Nerve, 2017
Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
Chen X et al.
Genetic Testing and Molecular Biomarkers, 2017
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
Lin N et al.
Clinical Chemistry, 2017
New mutations and genotype-phenotype correlation in late-onset Pompe patients.
Bekircan-Kurt CE et al.
Acta Neurologica Belgica, 2017
Quantification of muscle pathology in infantile Pompe disease.
Schänzer A et al.
Neuromuscular Disorders : Nmd, 2017
Analysis of voice quality in patients with late-onset Pompe disease.
Szklanny K 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
[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].
Ding J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A et al.
Jimd Reports, 2015
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
Liu X et al.
Bmc Medical Genetics, 2014
[Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme].
Moreno-Medinilla E et al.
Revista De Neurologia, 2014