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
Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.
Szczepara S et al.
Medical Sciences (basel, Switzerland), 2025
Therapeutic effects of lomerizine on vasculopathy in Fabry disease.
Choi JB et al.
Scientific Reports, 2025
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
Fabry Disease with Genetic Variants of Unknown Significance and Concomitant Immunoglobulin A Nephropathy.
Zhou H et al.
Kidney & Blood Pressure Research, 2024
Long-term safety and efficacy of pegunigalsidase alfa: A multicenter 6-year study in adult patients with Fabry disease.
Hughes D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients.
Lam YLT et al.
Orphanet Journal of Rare Diseases, 2023
Fasudil alleviates the vascular endothelial dysfunction and several phenotypes of Fabry disease.
Choi JB et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023
Generation of a CRISPR/Cas9-corrected-hiPSC line (DDLABi001-A) from Fabry disease (FD)-derived iPSCs having α-galactosidase (GLA) gene mutation (c.803_806del).
Choi JB et al.
Stem Cell Research, 2023
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Enhanced thrombospondin-1 causes dysfunction of vascular endothelial cells derived from Fabry disease-induced pluripotent stem cells.
Do HS et al.
Ebiomedicine, 2020
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.
Lee TH et al.
European Journal of Neurology, 2019
Female Fabry disease patients and X-chromosome inactivation.
Juchniewicz P et al.
Gene, 2018
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu YH et al.
Journal of Human Genetics, 2018
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
Wijburg FA et al.
Plos One, 2015
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
Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease.
Lubanda JC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
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