Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis

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 endocrinopathies, d...

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Detalles Bibliográficos
Autores principales: Curie, Aurore, Touil, Nathalie, Gaillard, Ségolène, Galanaud, Damien, Leboucq, Nicolas, Deschênes, Georges, Morin, Denis, Abad, Fanny, Luauté, Jacques, Bodenan, Eurielle, Roche, Laurent, Acquaviva, Cécile, Vianey-Saban, Christine, Cochat, Pierre, Cotton, François, Bertholet-Thomas, Aurélia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045592/
https://www.ncbi.nlm.nih.gov/pubmed/32102670
http://dx.doi.org/10.1186/s13023-019-1271-6

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