Associated Papers
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Linares D et al.
Molecular Genetics and Metabolism, 2023
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
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
Nowak A et al.
Journal of Medical Genetics, 2022
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
Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Rosa Neto NS et al.
Advances in Rheumatology (london, England), 2020
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.
Frabasil J et al.
Jimd Reports, 2019
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Female Fabry disease patients and X-chromosome inactivation.
Juchniewicz P et al.
Gene, 2018
Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.
Franzen D et al.
Bmj Open Respiratory Research, 2018
Variable phenotypic presentations of renal involvement in Fabry disease: a case series.
McCloskey S et al.
F1000research, 2018
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.
Heo SH et al.
Journal of Medical Genetics, 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
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease.
Tomberli B et al.
European Journal of Heart Failure, 2013
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT et al.
Journal of Human Genetics, 2012
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
Lee BH et al.
Journal of Human Genetics, 2010
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
Park JY et al.
Experimental & Molecular Medicine, 2009
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
[Molecular genetics of Fabry disease].
Sakuraba H
Seikagaku. the Journal of Japanese Biochemical Society, 1989