Associated Papers
Urinary VEGF-A165b mRNA expression in Fabry disease: Pilot study.
Jaurretche S et al.
Nefrologia, 2026
Cutaneous manifestations of Fabry disease: A systematic review.
Al-Chaer RN et al.
The Journal of Dermatology, 2025
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.pdf
Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.
Muntean C et al.
Frontiers in Pediatrics, 2022
High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease.
Jaurretche S et al.
Case Reports in Nephrology, 2019
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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Non-Classic
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
Clinical and molecular characterization of an extended family with Fabry disease.
Wattanasirichaigoon D et al.
Journal of the Medical Association of Thailand = Chotmaihet Thangphaet, 2006
Fabry nephropathy. Role of nephrologist and clinical variables associated with the diagnosis.
Jaurretche S et al.
Nefrologia, 0
Direct Correlation between Age at Diagnosis and Severity of Nephropathy in Fabry Disease Patients.
Jaurretche SPA et al.
Indian Journal of Nephrology, 0
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