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
Late-onset Pompe disease with a novel mutation and a rare phenotype: A case report.
Si X et al.
Cns Neuroscience & Therapeutics, 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
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Hernández-Arévalo P et al.
Orphanet Journal of Rare Diseases, 2021
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño MY 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
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
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 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
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
[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
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
Liu X et al.
Bmc Medical Genetics, 2014
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
Two new missense mutations of GAA in late onset glycogen storage disease type II.
Park YE et al.
Journal of the Neurological Sciences, 2006
Seven cases of Pompe disease from Greece.
Kroos M et al.
Journal of Inherited Metabolic Disease, 2006
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