Associated Papers
Decreased trabecular bone score in patients affected by Fabry disease.
Varaldo E et al.
Journal of Endocrinological Investigation, 2025
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
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H et al.
Current Issues in Molecular Biology, 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
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 2020
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
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 2018
Low frequency of Fabry disease in patients with common heart disease.
Schiffmann R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.
Fancellu L et al.
Bmc Neurology, 2015
Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.
Ferreira S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
Rolfs A et al.
Stroke, 2013
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Lukas J et al.
Plos Genetics, 2013