Is it or is it not a pathogenic mutation? Is it or is it not the podocyte?

Maria Dolores Sanchez-Niño ¹, Alberto Ortiz ² *

Cited by CrossRef: 7

1- Liern M, Collazo A, Valencia M, Fainboin A, Isse L, Costales-Collaguazo C, Ochoa F, Vallejo G, Zotta E. Podocituria en pacientes pediátricos con enfermedad de Fabry. Nefrología. 2019;39(2):177 [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- Alfen F, Putscher E, Hecker M, Zettl U, Hermann A, Lukas J. Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations. IJMS. 2022;23(23):15261 [Crossref]

4- 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]

5- Liern M, Colazo A, Vallejo G, Zotta E. Antiproteinuric action of amiloride in paediatric patient with corticoresistant nephrotic syndrome. Nefrología (English Edition). 2021;41(3):304 [Crossref]

6- Liern M, Colazo A, Vallejo G, Zotta E. Acción antiproteinúrica del amiloride en el paciente pediátrico con síndrome nefrótico corticorresistente. Nefrología. 2021;41(3):304 [Crossref]

7- Liern M, Collazo A, Valencia M, Fainboin A, Isse L, Costales-Collaguazo C, Ochoa F, Vallejo G, Zotta E. Podocyturia in pediatric patients with Fabry disease. Nefrología (English Edition). 2019;39(2):177 [Crossref]