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
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Boueri M et al.
Molecular Genetics and Metabolism, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Genotype-phenotype correlation and CRIM status in Vietnamese children with Pompe disease: a single-center experience.
Nguyen THT et al.
Future Science Oa, 2025
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.
Jiao K et al.
Journal of Inherited Metabolic Disease, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
Martinez-Montoya V et al.
Molecular Genetics & Genomic Medicine, 2024
Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.
Chen HA et al.
Frontiers in Immunology, 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
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.
Yang CF et al.
Journal of Medical Genetics, 2023
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
Muscle biochemical and pathological diagnosis in Pompe disease.
Saito Y et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 2021
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Hsueh CY 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
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
The First Year Experience of Newborn Screening for Pompe Disease in California.
Tang H et al.
International Journal of Neonatal Screening, 2020
Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien YH et al.
Orphanet Journal of Rare Diseases, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
Lee H et al.
Yonsei Medical Journal, 2019
Gene-specific features enhance interpretation of mutational impact on acid α-glucosidase enzyme activity.
Adhikari AN
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 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
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
Liu HX et al.
Chinese Medical Journal, 2018
Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.
Chien YH et al.
The Journal of Pediatrics, 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
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
Chien YH et al.
The Journal of Pediatrics, 2011
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Labrousse P et al.
Molecular Genetics and Metabolism, 2010
Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A.
Hua BL et al.
Chinese Medical Journal, 2010
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Wan L et al.
Journal of Neurology, 2008