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Neurocognitive functioning in school-aged cystinosis patients

INTRODUCTION: Cystinosis is an autosomal recessive disorder leading to intralysosomal cystine accumulation in various tissues. It causes renal Fanconi syndrome and end stage renal failure around the age of 10 years if not treated with cysteamine. Children with cystinosis seem to have a normal intell...

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Detalles Bibliográficos
Autores principales: Besouw, M. T. P., Hulstijn-Dirkmaat, G. M., van der Rijken, R. E. A., Cornelissen, E. A. M., van Dael, C. M., Vande Walle, J., Lilien, M. R., Levtchenko, E. N.
Formato: Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992654/
https://www.ncbi.nlm.nih.gov/pubmed/20814825
http://dx.doi.org/10.1007/s10545-010-9182-7