Associated Papers
Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.
Tsai SF et al.
Renal Failure, 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
Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report.
Choi HS et al.
Bmc Medical Genomics, 2024
What Is Hidden in Patients with Unknown Nephropathy? Genetic Screening Could Be the Missing Link in Kidney Transplantation Diagnosis and Management.
Mitrotti A et al.
International Journal of Molecular Sciences, 2024
Frequency of Fabry disease in chronic kidney disease patients including patients on renal replacement therapy in Korea.
Cho E et al.
Kidney Research and Clinical Practice, 2024
Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.
Gragnaniello V et al.
International Journal of Neonatal Screening, 2023
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
Lippi M et al.
Biomolecules, 2022
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
Gragnaniello V et al.
Biomolecules, 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
Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.
Paim-Marques L et al.
Pediatric Rheumatology Online Journal, 2021
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
Effects of agalsidase-β administration on vascular function and blood pressure in familial Anderson-Fabry disease.
Stamerra CA et al.
European Journal of Human Genetics : Ejhg, 2021
Oxidative stress biomarkers in Fabry disease: is there a room for them?
Simoncini C et al.
Journal of Neurology, 2020
Identifying Fabry patients in dialysis population: prevalence of GLA mutations by renal clinic screening, 1995-2019.
Capuano I et al.
Journal of Nephrology, 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
Functional Characterization and Pharmacological Evaluation of a Novel GLA Missense Mutation Found in a Severely Affected Fabry Disease Family.
Varela P et al.
Nephron, 2020
Angiokeratomas, not everything is Fabry disease.
Cuestas D et al.
International Journal of Dermatology, 2019
Maternal germline mosaicism in Fabry disease.
Pianese L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Clinical impact of the alpha-galactosidase A gene single nucleotide polymorphism -10C>T: A single-center observational study.
Oder D et al.
Medicine, 2018
Fabry disease in the Spanish population: observational study with detection of 77 patients.
Vieitez I et al.
Orphanet Journal of Rare Diseases, 2018
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.
Doheny D et al.
Journal of Medical Genetics, 2018
Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.
Arends M et al.
Journal of Inherited Metabolic Disease, 2018
Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area.
Zizzo C et al.
Kidney & Blood Pressure Research, 2018
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
Tuttolomondo A et al.
Oncotarget, 2017
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
Arends M et al.
Journal of the American Society of Nephrology : Jasn, 2017
Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C.
Oliván-Viguera A et al.
Frontiers in Physiology, 2017
Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.
Gervas-Arruga J et al.
Bmc Genetics, 2015
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
Tuttolomondo A et al.
Clinical Biochemistry, 2015
Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype.
Schelleckes M et al.
Orphanet Journal of Rare Diseases, 2014
An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke.
Zeevi DA et al.
Gene, 2014
Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry disease.
Samuelsson K et al.
Journal of Clinical Neurology (seoul, Korea), 2014
Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease.
Niemann M et al.
Circulation. Cardiovascular Genetics, 2014
A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report.
Pisani A et al.
Bmc Cardiovascular Disorders, 2012
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Ferri L et al.
Clinical Genetics, 2012
Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy.
Üçeyler N et al.
Journal of the Peripheral Nervous System : Jpns, 2011
Genetic screening of Fabry patients with EcoTILLING and HRM technology.
Bono C et al.
Bmc Research Notes, 2011
Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Posch MG et al.
Plos One, 2011
Abstracts of the International Workshop on Lysosomal Storage Diseases. November 7-8, 2008. Lisbon, Portugal.
Unknown Author
Expert Opinion on Therapeutic Targets, 2009
Kidney biopsy findings in heterozygous Fabry disease females with early nephropathy.
Valbuena C et al.
Virchows Archiv : an International Journal of Pathology, 2008
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
Rodríguez-Marí A et al.
Human Mutation, 2003
Progression of left ventricular mass is associated with clinical events in key subgroups of Fabry disease: Analyses from the Fabry Registry.
Moon JC et al.
Molecular Genetics and Metabolism, 0