Associated Papers
Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.
Mursă A et al.
Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne, 2024
Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression.
Alonso-Núñez A et al.
International Journal of Molecular Sciences, 2024
Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family.
San Millán-Tejado B et al.
Journal of Clinical Medicine, 2023
The Impact of Kidney Biopsy for Fabry Nephropathy Evaluation on Patients' Management and Long-Term Outcomes: Experience of a Single Center.
Rusu EE et al.
Biomedicines, 2022
Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience.
Effraimidis G et al.
Plos One, 2022
The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.
Besada P et al.
Biomolecules, 2021
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 2021
Fabry disease in the Spanish population: observational study with detection of 77 patients.
Vieitez I et al.
Orphanet Journal of Rare Diseases, 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
Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.
Oder D et al.
Bmc Medical Genetics, 2016
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein.
Dominissini S et al.
Human Heredity, 2004
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
Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.
Militaru S et al.
Current Health Sciences Journal, 0
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 0