Associated Papers
Fabry Disease: A Focus on the Role of Oxidative Stress.
Rydzek J et al.
Antioxidants (basel, Switzerland), 2026
Impact of ER stress and the unfolded protein response on Fabry disease.
Lenders M et al.
Ebiomedicine, 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
Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report.
Tanaka K et al.
Frontiers in Medicine, 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
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.
de Haan A et al.
Clinical Kidney Journal, 2023
Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.
Chumakova OS et al.
Frontiers in Cardiovascular Medicine, 2023
α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.
Consolato F et al.
Molecular Genetics and Metabolism Reports, 2022
Landscape of Secondary Findings in Chinese Population: A Practice of ACMG SF v3.0 List.
Huang Y et al.
Journal of Personalized Medicine, 2022
Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.
Li W et al.
Molecular Omics, 2022
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Muntean C et al.
Frontiers in Pediatrics, 2022
Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.
Xiao M et al.
Frontiers in Medicine, 2022
Screening of Fabry disease in patients with chronic kidney disease in Japan.
Nagata A et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease.
Modrego A et al.
International Journal of Molecular Sciences, 2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP et al.
Molecular Genetics & Genomic Medicine, 2021
Fabry Disease and the Heart: A Comprehensive Review.
Azevedo O et al.
International Journal of Molecular Sciences, 2021
A case of latent heterozygous Fabry disease in a female living kidney donor candidate.
Minami M et al.
Cen Case Reports, 2021
A classic variant of Fabry disease in a family with the M296I late-onset variant.
Hirashio S et al.
Cen Case Reports, 2021
The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.
Sorriento D et al.
International Journal of Molecular Sciences, 2021
Case Report: First Two Identified Cases of Fabry Disease in Central Asia.
Cainelli F et al.
Frontiers in Genetics, 2021
Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.
Tsukimura T et al.
Molecular Genetics and Metabolism Reports, 2020
Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.
Zhang R et al.
Renal Failure, 2020
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 screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 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
Newborn screening for Fabry disease in the western region of Japan.
Sawada T et al.
Molecular Genetics and Metabolism Reports, 2020
Efficacy and safety of migalastat in a Japanese population: a subgroup analysis of the ATTRACT study.
Narita I et al.
Clinical and Experimental Nephrology, 2020
Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.
Fujisawa H et al.
Bmc Nephrology, 2019
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant.
Talbot A 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
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
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Germain DP et al.
Molecular Genetics & Genomic Medicine, 2018
Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.
Reisin RC et al.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 2018
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease.
Talbot A et al.
Molecular Genetics and Metabolism, 2017
Biomarkers and Imaging Findings of Anderson-Fabry Disease-What We Know Now.
Beirão I et al.
Diseases (basel, Switzerland), 2017
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
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA et al.
Journal of Medical Genetics, 2017
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 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