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
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients.
Severa G et al.
Journal of Neuropathology and Experimental Neurology, 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
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
Extensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease.
Pilotto A et al.
Scientific Reports, 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
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.
Fiumara A et al.
Molecular Genetics and Metabolism Reports, 2024
Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses.
Krenn M et al.
Journal of Neurology, 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
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
Infantile Pompe disease with intrauterine onset: a case report and literature review.
Xi H et al.
Italian Journal of Pediatrics, 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
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.
Journal of Neuromuscular Diseases, 2022
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.
Ravaglia S et al.
Journal of Applied Physiology (bethesda, Md. : 1985), 2021
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.
Tarallo A et al.
Embo Molecular Medicine, 2021
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
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
Sidorina A et al.
Journal of Inherited Metabolic Disease, 2021
A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.
Bergsma AJ et al.
European Journal of Human Genetics : Ejhg, 2021
Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.
Papadimas GK et al.
Neuromuscular Disorders : Nmd, 2021
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Gharesouran J et al.
Metabolic Brain Disease, 2020
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S et al.
Aging, 2020
Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
Alila-Fersi O et al.
Journal of Molecular Neuroscience : Mn, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 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
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
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese M et al.
Neuromuscular Disorders : Nmd, 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
2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease.
Plöckinger U et al.
Human Genomics, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R et al.
Orphanet Journal of Rare Diseases, 2018
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.
Pichiecchio A et al.
Journal of Neurology, 2017
Bent spine syndrome as the initial symptom of late-onset Pompe disease.
Taisne N 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
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
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A et al.
Journal of Inherited Metabolic Disease, 2016
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
RECURRENCE OF POMPE DISEASE IN FIRST COUSINS.
Lacombe D et al.
Genetic Counseling (geneva, Switzerland), 2015
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Parenti G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014
Genotype-phenotype correlation in Pompe disease, a step forward.
De Filippi P et al.
Orphanet Journal of Rare Diseases, 2014
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
Remiche G et al.
Journal of Neurology, 2014
Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease.
Baruteau J et al.
Jimd Reports, 2014
The brain in late-onset glycogenosis II: a structural and functional MRI study.
Borroni B et al.
Journal of Inherited Metabolic Disease, 2013