Associated Papers
Fabry Cardiomyopathy: Myocardial Fibrosis, Inflammation, and Down-Regulation of Mannose-6-Phosphate Receptors Cause Low Accessibility to Enzyme Replacement Therapy.
Frustaci A et al.
Journal of the American Heart Association, 2025
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
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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 2021
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
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.
Verrecchia E et al.
European Journal of Internal Medicine, 2016
Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
Zampetti A et al.
Cytokine, 2013
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy.
Chimenti C et al.
Circulation, 2004
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
Morrone A et al.
Journal of Medical Genetics, 2003
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.
Pieroni M et al.
Circulation, 2003
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.
Germain DP et al.
Human Mutation, 2001
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Topaloglu AK et al.
Molecular Medicine (cambridge, Mass.), 1999
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 0