Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis | Orphanet Journal of Rare Diseases | Full Text

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis | Orphanet Journal of Rare Diseases | Full Text

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis

Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the...

Authors: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 and Aurélia Bertholet-Thomas

Citation:Orphanet Journal of Rare Diseases 2020 15:59

Content type:Research

Published on: 26 February 2020

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