Associated Papers
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation.
Wallraven T et al.
Npj Genomic Medicine, 2026
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry.
Hughes DA et al.
Journal of Inherited Metabolic Disease, 2025
Plasma and platelet lipidome changes in Fabry disease.
Burla B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024
Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease.
Avarappattu J et al.
Pediatric Nephrology (berlin, Germany), 2024
Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.
Gatterer C et al.
Life (basel, Switzerland), 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
COVID-19 in Fabry disease: a reference center prospective study.
Bothou C et al.
Orphanet Journal of Rare Diseases, 2022
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
Nowak A et al.
Journal of Medical Genetics, 2022
Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.
Wiest MRJ et al.
Journal of Clinical Medicine, 2021
Second-Generation Pharmacological Chaperones: Beyond Inhibitors.
Tran ML et al.
Molecules (basel, Switzerland), 2020
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.
Nowak A et al.
Journal of Inherited Metabolic Disease, 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
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
Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy.
Franzen D et al.
Bmj Open Respiratory Research, 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
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
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.
Citro V et al.
Plos One, 2016
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
Warnock DG et al.
Journal of Medical Genetics, 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
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
Rosenthal D et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2004
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Shabbeer J et al.
Molecular Genetics and Metabolism, 2002