Associated Papers
Cardiac Manifestations in Fabry Disease: A Case Report on Two Siblings.
Kovačić S et al.
Diagnostics (basel, Switzerland), 2025
Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.
Alfen F et al.
International Journal of Molecular Sciences, 2022
Increased Serum Interleukin-6 and Tumor Necrosis Factor Alpha Levels in Fabry Disease: Correlation with Disease Burden.
Rosa Neto NS et al.
Clinics (sao Paulo, Brazil), 2021
Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients.
Rosa Neto NS et al.
Molecular Genetics and Metabolism Reports, 2020
Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients.
Rosa Neto NS et al.
Advances in Rheumatology (london, England), 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
30497360 (PubMed )
Supplement: 12859_2018_2416_MOESM2_ESM.xlsx › ST2
Expression of uPAR in Urinary Podocytes of Patients with Fabry Disease.
Trimarchi H et al.
International Journal of Nephrology, 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
Increased urinary CD80 excretion and podocyturia in Fabry disease.
Trimarchi H et al.
Journal of Translational Medicine, 2016
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
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