Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

Nephropathic cystinosis is an autosomal recessive metabolic, lifelong disease characterized by lysosomal cystine accumulation throughout the body that commonly presents in infancy with a renal Fanconi syndrome and, if untreated, leads to end-stage kidney disease (ESKD) in the later childhood years....

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Main Authors: Langman, C., Barshop, B., Deschênes, G., Emma, F., Goodyer, P., Lipkin, G., Midgley, J., Ottolenghi, C., Servais, A., Soliman, N., Thoene, J., Levtchenko, E., Amon, O., Ariceta, G., Basurto, M., Belmont-Martínez, L., Bertholet-Thomas, A., Bos, M., Brown, T., Cherqui, S., Cornelissen, E., Del Monte, M., Ding, J., Dohil, R., Doyle, M., Elenberg, E., Gahl, W., Gomez, V., Greco, M., Greeley, C., Greenbaum, L., Grimm, P., Hohenfellner, K., Holm, T., Hotz, V., Janssen, M., Kaskel, F., Magriço, R., Nesterova, G., Newsholme, Philip, Niaudet, P., Rioux, P., Sarwal, M., Schneider, J., Topaloglu, R., Trauner, D., Vaisbich, M., van den Heuvel, L., Van't Hoff, W.
Format: Journal Article
Published: Nature Publishing Group 2016
Online Access:http://hdl.handle.net/20.500.11937/30119