Associated Papers
Impact of migalastat on cerebral outcomes in fabry disease - results from the prospective observational FAMOUS trial.
Choudhury M et al.
Neurological Research and Practice, 2025
Functional and histopathologic correlation in the fabry nephropathy with N215S genotype.
Mignani R et al.
Orphanet Journal of Rare Diseases, 2025
Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.
Lü Y et al.
Prenatal Diagnosis, 2025
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.
Viall S et al.
Molecular Genetics and Metabolism Reports, 2025
Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy.
Ivanova MM et al.
Cells, 2025
The Fabry Nephropathy in Patients with N215S Variant.
Mignani R et al.
Nephron, 2025
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
8th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities in 2024.
Unknown Author
Nephron, 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
Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy.
Ivanova MM et al.
Cells, 2023
Biomarkers for Monitoring Renal Damage Due to Fabry Disease in Patients Treated with Migalastat: A Review for Nephrologists.
Jaurretche S et al.
Genes, 2022
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Sawada T et al.
Diagnostics (basel, Switzerland), 2021
Fabry Disease and the Heart: A Comprehensive Review.
Azevedo O et al.
International Journal of Molecular Sciences, 2021
Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).
Lenders M et al.
Clinical Pharmacology and Therapeutics, 2020
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
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
Lata S et al.
Annals of Internal Medicine, 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
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
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry Disease.
Patel V et al.
Heart (british Cardiac Society), 2015
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Pharmacological chaperone therapy for Fabry disease.
Ishii S
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2012
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.
Andreotti G et al.
Orphanet Journal of Rare Diseases, 2010
[Contribution of genotyping in Fabry's disease].
Froissart R et al.
La Revue De Medecine Interne, 2010
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
Benjamin ER et al.
Journal of Inherited Metabolic Disease, 2009
A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity.
Fan JQ
Biological Chemistry, 2008
Structural characterization of mutant alpha-galactosidases causing Fabry disease.
Sugawara K et al.
Journal of Human Genetics, 2008
Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.
Fan JQ et al.
The Febs Journal, 2007
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S et al.
The Biochemical Journal, 2007
High incidence of later-onset fabry disease revealed by newborn screening.
Spada M et al.
American Journal of Human Genetics, 2006
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant.
Germain DP
Contributions to Nephrology, 2001
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.
Nakao S et al.
The New England Journal of Medicine, 1995
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Eng CM et al.
Human Molecular Genetics, 1994
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Eng CM et al.
Human Mutation, 1994
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
Sakuraba H et al.
Genomics, 1992
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
von Scheidt W et al.
The New England Journal of Medicine, 1991
Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis.
Jaurretche S et al.
Nefrologia, 0