Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis

Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis

Abstract Background 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 age of 12 and 16. Other symptoms occur later and encompass endocrinopa...

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Main 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, Aurélia Bertholet-Thomas
Format: Article
Language:English
Published: BMC 2020-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Cystinosis
Neuroimaging
Neuropsychological profile
Online Access:http://link.springer.com/article/10.1186/s13023-019-1271-6

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