First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease

por Greillier, Sophie, Daniel, Laurent, Caillaud, Catherine, Dussol, Bertrand, Touchard, Guy, Goujon, Jean-Michel, Jourde-Chiche, Noémie, Bobot, Mickaël
Publicado 2020

Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis

por Robert, Thomas, greillier, Sophie, Torrents, Julia, Raymond, Laure, Dancer, Marine, Jourde-Chiche, Noémie, Halimi, Jean-Michel, Burtey, Stéphane, Béroud, Christophe, Mesnard, Laurent
Publicado 2023