Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

Background: Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase enzyme deficiency. We present clinical, biochemical, and histologic findings in children with classical phenotypic presentation of Fabry disease.Methods: A retrospective analysis was performed using charts...

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Publicado en:Pediatric Nephrology Vol. 33; no. 11; pp. 2095 - 2102
Autores principales: Politei, Juan, Alberton, Valeria, Amoreo, Oscar, Antongiovanni, Norberto, Arán, Maria Nieves, Barán, Marcelo, Cabrera, Gustavo, Di Pietrantonio, Silvia, Durand, Consuelo, Fainboim, Alejandro, Frabasil, Joaquin, Pizarro, Fernando Gomez, Iotti, Roberto, Liern, Miguel, Perretta, Fernando, Ripeau, Diego, Toniolo, Fernanda, Trimarchi, Hernan, Rivas, Dana Velasques, Wallace, Eric
Formato: diagnostic images research tables/charts Journal Article
Publicado: Springer Nature Nov2018
Acceso en línea:Ver este registro en EBSCOhost