Associated Papers
Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.
Szczepara S et al.
Medical Sciences (basel, Switzerland), 2025
Generation of a gene-corrected human isogenic iPSC line from a patient with Fabry disease carrying the GLA variant c.1069C>T using CRISPR/Cas9-mediated homology directed repair.
Karl-Schöller F et al.
Stem Cell Research, 2025
Proton Density of the Dorsal Root Ganglia in Classical Fabry Disease: MRI Correlates of Small Fibre Neuropathy.
Weiner S et al.
Biomedicines, 2025
MRI T2 Mapping of Dorsal Root Ganglia Reveals Increased T2 Relaxation Time in Classical Fabry Disease.
Weiner S et al.
Biomedicines, 2025
Genetic variants of unknown significance in alpha-galactosidase A: Cellular delineation from Fabry disease.
Klein A et al.
Journal of Inherited Metabolic Disease, 2024
In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease.
Breyer M et al.
Molecular Genetics and Metabolism Reports, 2024
Small fibre neuropathy in Fabry disease: a human-derived neuronal in vitro disease model and pilot data.
Klein T et al.
Brain Communications, 2024
Dorsal root ganglion magnetic resonance imaging biomarker correlations with pain in Fabry disease.
Schindehütte M et al.
Brain Communications, 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
Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach.
Klug K et al.
International Journal of Molecular Sciences, 2023
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.
Capuano I et al.
Journal of Nephrology, 2020
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.
Lombardi S et al.
Rna Biology, 2020
Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study.
Weidemann F et al.
Molecular Genetics and Metabolism, 2019
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease.
Altarescu G et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2013
Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.
Valenzano KJ et al.
Assay and Drug Development Technologies, 2011
Thrombosis in Japanese patients with Fabry disease.
Utsumi K et al.
Journal of the Neurological Sciences, 2009
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Shin SH et al.
Pharmacogenetics and Genomics, 2008
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.
Fan JQ et al.
The Febs Journal, 2007
4-Phenylbutyrate rescues trafficking incompetent mutant alpha-galactosidase A without restoring its functionality.
Yam GH et al.
Biochemical and Biophysical Research Communications, 2007
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.
Yam GH et al.
American Journal of Physiology. Cell Physiology, 2006
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder.
Yam GH et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2005
Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course.
Branton MH et al.
Medicine, 2002
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
High incidence of thrombosis in Fabry's disease.
Utsumi K et al.
Internal Medicine (tokyo, Japan), 1997