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J Nephropathol. 2012;1(3): 194-197. doi: 10.5812/nephropathol.8123
PMID: 24475416        PMCID: PMC3886146

Case Report

A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation

Jorge H. Mukdsi 1 * , Silvina Gutiérrez 1, Belén Barrón 1, Pablo Novoa 2, Segundo Fernández 3, Ana B de Diller 4, Alicia I. Torres 1, Richard N Formica Jr. 5, Marcelo Orías 2

Cited by CrossRef: 7


1- Sanchez-Niño M, Ortiz A. Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?. J Nephropathol. 2012;1(3):152 [Crossref]
2- Ferreira S, Ortiz A, Germain D, Viana-Baptista M, Caldeira-Gomes A, Camprecios M, Fenollar-Cortés M, Gallegos-Villalobos Á, Garcia D, García-Robles J, Egido J, Gutiérrez-Rivas E, Herrero J, Mas S, Oancea R, Péres P, Salazar-Martín L, Solera-Garcia J, Alves H, Garman S, Oliveira J. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: Data from individual patients and family studies. Molecular Genetics and Metabolism. 2015;114(2):248 [Crossref]
3- Germain D, Elliott P, Falissard B, Fomin V, Hilz M, Jovanovic A, Kantola I, Linhart A, Mignani R, Namdar M, Nowak A, Oliveira J, Pieroni M, Viana-Baptista M, Wanner C, Spada M. The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts. Molecular Genetics and Metabolism Reports. 2019;19:100454 [Crossref]
4- Torra R, Ortiz A. Fabry disease: the many faces of a single disorder. Clinical Kidney Journal. 2012;5(5):379 [Crossref]
5- Giau V, Bagyinszky E, Youn Y, An S, Kim S. Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome. IJMS. 2019;20(17):4298 [Crossref]
6- Raj A, Sajayan K, Chandran C S, Alex A. Fabry disease management: Current status, therapeutic challenges, and future horizons in drug delivery and artificial intelligence assisted diagnosis. Journal of Drug Delivery Science and Technology. 2024;100:106032 [Crossref]
7- Serebrinsky G, Calvo M, Fernandez S, Saito S, Ohno K, Wallace E, Warnock D, Sakuraba H, Politei J. Late onset variants in Fabry disease: Results in high risk population screenings in Argentina. Molecular Genetics and Metabolism Reports. 2015;4:19 [Crossref]