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
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Enhancing Fabry disease screening and diagnostic efficiency: Integration of enzyme, biomarker, and next-generation sequencing testing.
Pan Y et al.
Molecular Genetics and Metabolism, 2025
Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy.
Ivanova MM et al.
Cells, 2025
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Yao F et al.
Human Genomics, 2024
Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies.
Borisch C et al.
Journal of Translational Medicine, 2024
The Effect of Fabry Disease Therapy on Bone Mineral Density.
Aitken T et al.
Diseases (basel, Switzerland), 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
How Do Physical Activity and Exercise Affect Fabry Disease? Exploring a New Opportunity.
Baciga F et al.
Kidney & Blood Pressure Research, 2024
Increased Soluble Interleukin 6 Receptors in Fabry Disease.
Lenzini L et al.
Journal of Clinical Medicine, 2023
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
Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Savostyanov K et al.
Genes, 2023
Circulated TGF-β1 and VEGF-A as Biomarkers for Fabry Disease-Associated Cardiomyopathy.
Ivanova MM et al.
Cells, 2023
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
Lenarduzzi S et al.
Molecular Genetics & Genomic Medicine, 2023
Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease.
Gambardella J et al.
Iscience, 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
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Germain DP et al.
Clinical Genetics, 2022
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
Nowak A et al.
Journal of Medical Genetics, 2022
Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease.
Mauhin W et al.
Journal of Clinical Medicine, 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
Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort.
Effraimidis G et al.
Journal of Medical Genetics, 2021
Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.
Ducatez F et al.
Journal of Personalized Medicine, 2021
Usefulness of Alcohol Septal Ablation in the Left Ventricular Outflow Tract Obstruction in Fabry Disease Cardiomyopathy.
Zemánek D et al.
The American Journal of Cardiology, 2021
The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.
Germain DP et al.
Molecular Genetics & Genomic Medicine, 2021
Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.
Rossi F et al.
High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension, 2021
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Janin A et al.
Molecular Diagnosis & Therapy, 2021
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
Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.
Wiest MRJ et al.
Journal of Clinical Medicine, 2021
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease.
van der Veen SJ et al.
International Journal of Molecular Sciences, 2020
MALDI imaging in Fabry nephropathy: a multicenter study.
L'Imperio V et al.
Journal of Nephrology, 2020
Accumulation of Globotriaosylceramide in Podocytes in Fabry Nephropathy Is Associated with Progressive Podocyte Loss.
Najafian B et al.
Journal of the American Society of Nephrology : Jasn, 2020
Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.
Varela P et al.
Orphanet Journal of Rare Diseases, 2020
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W et al.
Plos One, 2020
Future clinical and biochemical predictions of Fabry disease in females by methylation studies of the GLA gene.
Hossain MA et al.
Molecular Genetics and Metabolism Reports, 2019
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
Kobayashi M et al.
Journal of Human Genetics, 2019
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.
Lee TH et al.
European Journal of Neurology, 2019
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.
Mazzarotto F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Fabry disease in a Japanese population-molecular and biochemical characteristics.
Sakuraba H et al.
Molecular Genetics and Metabolism Reports, 2018
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Mauhin W et al.
Orphanet Journal of Rare Diseases, 2018