Associated Papers
Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.
Nguyen THT et al.
Future Science Oa, 2025
Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.
Regmi N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
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
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L et al.
Bmc Medical Genetics, 2019
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Desai AK et al.
Molecular Genetics and Metabolism Reports, 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
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
Prater SN et al.
Orphanet Journal of Rare Diseases, 2013
Low-frequency enzyme replacement therapy in late-onset Pompe disease.
Lin DS et al.
Muscle & Nerve, 2013
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT et al.
Molecular Genetics and Metabolism, 2012
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
Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
Palmer RE et al.
Neuromuscular Disorders : Nmd, 2007
Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.
Prakalapakorn SG et al.
Journal of Pediatric Ophthalmology and Strabismus, 0