Associated Papers
Physical Fitness and Physical Function in Patients With Fabry Disease: A Cross-Sectional Multicentre Study.
Vitturi N et al.
Journal of Cachexia, Sarcopenia and Muscle, 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
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
Increased Soluble Interleukin 6 Receptors in Fabry Disease.
Lenzini L et al.
Journal of Clinical Medicine, 2023
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 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
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R et al.
Plos One, 2017
Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy.
Chimenti C et al.
Human Pathology, 2015
Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study.
Chimenti C et al.
Human Pathology, 2012
Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients.
Massaccesi L et al.
Clinical Biochemistry, 2011
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble?
Invernizzi P et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2008
The pulvinar sign: frequency and clinical correlations in Fabry disease.
Burlina AP et al.
Journal of Neurology, 2008
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