Associated Papers
Metabolic and proteomic profiles provide insights on mechanism of late onset Pompe disease.
Lu Y et al.
Molecular Genetics and Metabolism, 2025
Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports.
Feng Q et al.
Medicine, 2024
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease.
Zhao Y et al.
Orphanet Journal of Rare Diseases, 2024
Pompe disease in China: clinical and molecular characteristics.
Li J et al.
Frontiers in Cardiovascular Medicine, 2023
Retrospective analysis of prenatal ultrasound of children with Pompe disease.
Li YL et al.
Taiwanese Journal of Obstetrics & Gynecology, 2022
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 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
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].
Ding J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Two novel mutations in the gene that codes for acid α-glucosidase in a baby with Pompe disease.
Hu J et al.
European Heart Journal, 2015
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M et al.
Human Mutation, 2012
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Labrousse P et al.
Molecular Genetics and Metabolism, 2010