Associated Papers
Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.
Khazzeka A et al.
Jimd Reports, 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
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
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan AA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 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
Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series.
Xu L et al.
Italian Journal of Pediatrics, 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
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
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A et al.
Jimd Reports, 2015
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