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
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
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
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
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 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
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
Enzyme therapy for hypertrophic cardiomyopathy in non-classical Pompe disease: Effectiveness of treatment.
Kim J et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2017
[Pompe disease treatable by enzyme replacement therapy and the underlying autophagic dysfunction].
Fukuda T
No to Hattatsu = Brain and Development, 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
Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.
Lee DH et al.
Jimd Reports, 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
Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease.
Ishigaki K et al.
Brain & Development, 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
High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.
Ishigaki K et al.
Acta Neuropathologica, 2010
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
[Enzyme replacement therapy in a patient with Pompe disease].
Fujikawa Y et al.
No to Hattatsu = Brain and Development, 2007
Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase".
Tajima Y et al.
Journal of Human Genetics, 2007
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Pipo JR et al.
Pediatric Neurology, 2003
Efficacy of avalglucosidase alfa in infantile-onset Pompe disease with high anti-alglucosidase alfa antibody titers.
Park AY et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0