Associated Papers
Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report.
Wei X et al.
Journal of Medical Case Reports, 2025
Clinical characteristics and interdepartmental collaboration for patients with Anderson-Fabry disease in Shiga Prefecture, Japan.
Tomioka D et al.
Molecular Genetics and Metabolism Reports, 2025
Impact of ER stress and the unfolded protein response on Fabry disease.
Lenders M et al.
Ebiomedicine, 2025
Case Report: Fabry disease overlapping with systemic lupus erythematosus in a pediatric patient.
Liu Y et al.
Frontiers in Immunology, 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
Clinical evaluation, accurate diagnosis and treatment of four pedigrees with Fabry's disease.
Gou P et al.
Frontiers in Pediatrics, 2023
The Benefits of Family Screening in Rare Diseases: Genetic Testing Reveals 165 New Cases of Fabry Disease among At-Risk Family Members of 83 Index Patients.
Moiseev S et al.
Genes, 2022
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
Expanding Approved Patient Populations for Rare Disease Treatment Using In Vitro Data.
Weaver JL et al.
Clinical Pharmacology and Therapeutics, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
A long-term neuropsychological evaluation in Fabry disease.
Loret G et al.
Acta Neurologica Belgica, 2021
Endothelial Dysfunction in Fabry Disease Is Related to Glycocalyx Degradation.
Pollmann S et al.
Frontiers in Immunology, 2021
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 in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S et al.
Jimd Reports, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
van der Veen SJ et al.
International Journal of Molecular Sciences, 2020
GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.
Dong ZY et al.
Annals of Translational Medicine, 2020
Recurrent arterial thrombosis in a patient with Fabry disease: case report.
Moraes AO et al.
Jornal Vascular Brasileiro, 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
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
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
Ventricular fibrillation associated with vasospastic angina pectoris in Fabry disease: a case report.
Kodama K et al.
European Heart Journal. Case Reports, 2019
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.
Moiseev S et al.
Nephron, 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
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Biomarkers of Myocardial Fibrosis: Revealing the Natural History of Fibrogenesis in Fabry Disease Cardiomyopathy.
Aguiar P et al.
Journal of the American Heart Association, 2018
Simple and efficient screening of patients with Fabry disease with high resolution melting.
Pasqualim G et al.
Clinical Biochemistry, 2018
Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs.
Colomba P et al.
Oncotarget, 2018
Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation.
Lavalle L et al.
Plos One, 2018
Fabry heterozygote mimicking multiple sclerosis.
Yau WY et al.
Bmj Case Reports, 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
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
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
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
Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.
Arends M et al.
Molecular Genetics and Metabolism, 2016