Associated Papers
Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.
Mori-Yoshimura M et al.
Molecular Genetics and Metabolism Reports, 2025
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
From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.
Sánchez-Porras V et al.
International Journal of Molecular Sciences, 2023
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
Chawla T et al.
Journal of Neuromuscular Diseases, 2022
Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease.
Takahashi J et al.
Journal of Neuromuscular Diseases, 2022
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 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
Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease.
Wang J et al.
Communications Biology, 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
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
Long-Term Observation of the Safety and Effectiveness of Enzyme Replacement Therapy in Japanese Patients with Pompe Disease: Results From the Post-marketing Surveillance.
Nagura H et al.
Neurology and Therapy, 2019
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
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
Molecular genetics of Pompe disease: a comprehensive overview.
Peruzzo P et al.
Annals of Translational Medicine, 2019
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.
Kim MS et al.
Korean Journal of Pediatrics, 2019
A Case of Adult-onset Pompe Disease with Cerebral Stroke and Left Ventricular Hypertrophy.
Hossain MA et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2018
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
Fukuhara Y et al.
Molecular Genetics and Metabolism Reports, 2018
High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.
Meijer OLM et al.
Jimd Reports, 2018
Metabolomic Profiling of Pompe Disease-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Reveals That Oxidative Stress Is Associated with Cardiac and Skeletal Muscle Pathology.
Sato Y et al.
Stem Cells Translational Medicine, 2017
Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.
Park JS et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease.
Shimada Y et al.
Jimd Reports, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Proteasome inhibition alleviates SNARE-dependent neurodegeneration.
Sharma M et al.
Science Translational Medicine, 2012
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.
Tsuburaya RS et al.
Neuromuscular Disorders : Nmd, 2012
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
Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.
Shimada Y et al.
Molecular Genetics and Metabolism, 2011
Proteasome inhibitors improve the function of mutant lysosomal α-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation.
Shimada Y et al.
Biochemical and Biophysical Research Communications, 2011
Rapid progressive course of later-onset Pompe disease in Chinese patients.
Yang CC et al.
Molecular Genetics and Metabolism, 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
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
Kobayashi H et al.
Molecular Genetics and Metabolism, 2010
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