Nephropathic cystinosis: an international consensus document

Abstract. Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the mos

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Bibliographic Details
Main Authors:	Emma, Francesco (Author) , Nesterova, Galina (Author) , Langman, Craig (Author) , Labbé, Antoine (Author) , Cherqui, Stephanie (Author) , Goodyer, Paul (Author) , Janssen, Mirian C. (Author) , Greco, Marcella (Author) , Topaloglu, Rezan (Author) , Elenberg, Ewa (Author) , Dohil, Ranjan (Author) , Trauner, Doris (Author) , Antignac, Corinne (Author) , Cochat, Pierre (Author) , Kaskel, Frederick (Author) , Servais, Aude (Author) , Wühl, Elke (Author) , Niaudet, Patrick (Author) , Van't Hoff, William (Author) , Gahl, William (Author) , Levtchenko, Elena (Author)
Format:	Article (Journal)
Language:	English
Published:	[2014]
In:	Nephrology, dialysis, transplantation Year: 2014, Volume: 29, Issue: suppl_4, Pages: iv87-iv94
ISSN:	1460-2385
DOI:	10.1093/ndt/gfu090
Online Access:	Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1093/ndt/gfu090 Verlag, lizenzpflichtig, Volltext: https://academic.oup.com/ndt/article/29/suppl_4/iv87/1907983
Author Notes:	Francesco Emma, Galina Nesterova, Craig Langman, Antoine Labbé, Stephanie Cherqui, Paul Goodyer, Mirian C. Janssen, Marcella Greco, Rezan Topaloglu, Ewa Elenberg, Ranjan Dohil, Doris Trauner, Corinne Antignac, Pierre Cochat, Frederick Kaskel, Aude Servais, Elke Wühl, Patrick Niaudet, William Van't Hoff, William Gahl and Elena Levtchenko

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Summary:	Abstract. Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the mos
Item Description:	Gesehen am 04.09.2020
Physical Description:	Online Resource
ISSN:	1460-2385
DOI:	10.1093/ndt/gfu090