Associated Papers
Screening for Pompe disease in Serbian patients with limb-girdle muscle weakness.
Sekulic A et al.
Clinical Neurology and Neurosurgery, 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
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic 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
A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.
Ajam-Hosseini M et al.
Bmc Medical Genomics, 2023
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 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
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 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
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Combination of two different homozygote mutations in Pompe disease.
Arslan A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Gutiérrez-Rivas E et al.
Neuromuscular Disorders : Nmd, 2015
Resolution of severe cardiomyopathy in infantile Pompe disease.
Parent JJ et al.
Cardiology in the Young, 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
Improvement of dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy.
Fecarotta S et al.
Italian Journal of Pediatrics, 2013
Pharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.
Porto C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2012
Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.
Tajima Y et al.
Journal of Human Genetics, 2011
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ et al.
Human Mutation, 2009
Seven cases of Pompe disease from Greece.
Kroos M et al.
Journal of Inherited Metabolic Disease, 2006