Associated Papers
High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.
Jiao K et al.
Journal of Inherited Metabolic Disease, 2025
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report.
Mir M et al.
Journal of Medical Case Reports, 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
Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease.
Li HY et al.
Bioorganic & Medicinal Chemistry, 2023
Genetic profiles of 103,106 individuals in the Taiwan Biobank provide insights into the health and history of Han Chinese.
Wei CY et al.
Npj Genomic Medicine, 2021
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
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease.
Shimada Y et al.
Jimd Reports, 2015
Normal hearing in a child with the m.1555A>G mutation despite repeated exposure to aminoglycosides. Has the penetrance of this pharmacogenetic interaction been overestimated?
Al-Malky G et al.
International Journal of Pediatric Otorhinolaryngology, 2014
The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.
Khanna R et al.
Plos One, 2014
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
A review of treatment of Pompe disease in infants.
Chien YH et al.
Biologics : Targets & Therapy, 2007
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hermans MM et al.
Human Mutation, 2004
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
van den Hout HM et al.
Pediatrics, 2003
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
Raben N et al.
Human Mutation, 1999
The African origin of the common mutation in African American patients with glycogen-storage disease type II.
Becker JA et al.
American Journal of Human Genetics, 1998
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Huie ML et al.
Biochemical and Biophysical Research Communications, 1998
The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.
Beesley CE et al.
Human Mutation, 1998
Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.
Shieh JJ et al.
Human Mutation, 1998
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Huie ML et al.
Human Mutation, 1994