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...
|Main Authors:||, , , , , , , , , , , , , , ,|
|Series:||Orphanet Journal of Rare Diseases|