Associated Papers
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E et al.
Circulation. Genomic and Precision Medicine, 2023
A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease.
Hwang S et al.
Medicine, 2022
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Muntean C et al.
Frontiers in Pediatrics, 2022
Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders.
Verma J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.
Reková P et al.
Journal of Clinical Medicine, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Nationwide screening for Fabry disease in unselected stroke patients.
Tomek A et al.
Plos One, 2021
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S et al.
Jimd Reports, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
Variable phenotypic presentations of renal involvement in Fabry disease: a case series.
McCloskey S et al.
F1000research, 2018
Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.
Choi JH et al.
Medicine, 2017
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
Kim JH et al.
Journal of Human Genetics, 2016