Associated Papers
Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA.
Peruzzo P et al.
Molecular Medicine (cambridge, Mass.), 2025
Long-term observation of patients with advanced late-onset Pompe disease undergoing enzyme replacement therapy: A 15-year observation in a single center.
Mori-Yoshimura M et al.
Brain & Development, 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
Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease.
Takahashi J et al.
Journal of Neuromuscular Diseases, 2022
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA et al.
Journal of Human Genetics, 2021
Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.
Park KS
Children (basel, Switzerland), 2021
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology.
Goina E 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
Pompe disease: literature review and case series.
Dasouki M et al.
Neurologic Clinics, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
Furusawa Y et al.
Journal of Inherited Metabolic Disease, 2012
Rapid progressive course of later-onset Pompe disease in Chinese patients.
Yang CC et al.
Molecular Genetics and Metabolism, 2011
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
Bali DS et al.
Muscle & Nerve, 2011
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Zampieri S et al.
European Journal of Human Genetics : Ejhg, 2011
Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
Maimaiti M et al.
Journal of Human Genetics, 2009