Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
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Author / Creator
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 and Bertholet-Thomas, Aurélia
Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
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, distal myopathy and deterioration of the central nervous system...
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Full title
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis
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TN_cdi_doaj_primary_oai_doaj_org_article_4287d4cdb907460991ff2be76b3900d8
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4287d4cdb907460991ff2be76b3900d8
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ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-019-1271-6
