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
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.
Cohen JL et al.
Jimd Reports, 2026
New advances in treating late-onset Pompe Disease: A narrative review.
Khan M et al.
European Journal of Pediatrics, 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
Presymptomatic late-onset Pompe disease: Optimizing the timing of treatment.
Guémy C et al.
Revue Neurologique, 2025
Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II.
Lejars M et al.
Stem Cell Research, 2025
Screening for Pompe disease in Serbian patients with limb-girdle muscle weakness.
Sekulic A et al.
Clinical Neurology and Neurosurgery, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 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
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Porcino M et al.
Neuromuscular Disorders : Nmd, 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
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
Pfrimmer C et al.
Journal of Neuromuscular Diseases, 2024
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.
Carter C et al.
Frontiers in Genetics, 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
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.
Jackson DG et al.
Molecular Genetics and Metabolism Reports, 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
The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.
Kansu A et al.
Frontiers in Pediatrics, 2023
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
L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.
Rovelli V et al.
Italian Journal of 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
Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase.
Iacono R et al.
Journal of Enzyme Inhibition and Medicinal Chemistry, 2021
Pharmacological Chaperone Therapy for Pompe Disease.
Borie-Guichot M et al.
Molecules (basel, Switzerland), 2021
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.
Tarallo A et al.
Embo Molecular 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
Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.
Buratti E et al.
Molecular Therapy. Methods & Clinical Development, 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
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 2020
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M et al.
Neuropathology and Applied Neurobiology, 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
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Vanherpe P et al.
Orphanet Journal of Rare Diseases, 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
Molecular Approaches for the Treatment of Pompe Disease.
Bellotti AS et al.
Molecular Neurobiology, 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
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 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
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
Ripolone M et al.
Neuropathology and Applied Neurobiology, 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