Bone Disease in Nephropathic Cystinosis: Beyond Renal Osteodystrophy

by Irma Machuca-Gayet, Thomas Quinaux, Aurélia Bertholet-Thomas, Ségolène Gaillard, Débora Claramunt-Taberner, Cécile Acquaviva-Bourdain, Justine Bacchetta
Published 2020-04-01

Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation

by Thomas Quinaux, Aurélia Bertholet-Thomas, Aude Servais, Olivia Boyer, Isabelle Vrillon, Julien Hogan, Sandrine Lemoine, Ségolène Gaillard, Candide Alioli, Sophie Vasseur, Cécile Acquaviva, Olivier Peyruchaud, Irma Machuca-Gayet, Justine Bacchetta
Published 2021-09-01

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis

by Aurore Curie, Nathalie Touil, Ségolène Gaillard, Damien Galanaud, Nicolas Leboucq, Georges Deschênes, Denis Morin, Fanny Abad, Jacques Luauté, Eurielle Bodenan, Laurent Roche, Cécile Acquaviva, Christine Vianey-Saban, Pierre Cochat, François Cotton, Aurélia Bertholet-Thomas
Published 2020-02-01