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Items: 11


The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.

Cherqui S, Courtoy PJ.

Nat Rev Nephrol. 2017 Feb;13(2):115-131. doi: 10.1038/nrneph.2016.182. Epub 2016 Dec 19. Review.


Cystinosis: a review.

Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E.

Orphanet J Rare Dis. 2016 Apr 22;11:47. doi: 10.1186/s13023-016-0426-y. Review.


Nephropathic cystinosis: an international consensus document.

Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94. doi: 10.1093/ndt/gfu090.


Cystinosis: the evolution of a treatable disease.

Nesterova G, Gahl WA.

Pediatr Nephrol. 2013 Jan;28(1):51-9. doi: 10.1007/s00467-012-2242-5. Epub 2012 Aug 18. Review.


A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety.

Langman CB, Greenbaum LA, Sarwal M, Grimm P, Niaudet P, Deschênes G, Cornelissen E, Morin D, Cochat P, Matossian D, Gaillard S, Bagger MJ, Rioux P.

Clin J Am Soc Nephrol. 2012 Jul;7(7):1112-20. doi: 10.2215/CJN.12321211. Epub 2012 May 3. Erratum in: Clin J Am Soc Nephrol. 2013 Mar 7;8(3):468.


The history of cystinosis: lessons for clinical management.

Goodyer P.

Int J Nephrol. 2011;2011:929456. doi: 10.4061/2011/929456. Epub 2011 Oct 13.


Genetic basis of cystinosis in Turkish patients: a single-center experience.

Topaloglu R, Vilboux T, Coskun T, Ozaltin F, Tinloy B, Gunay-Aygun M, Bakkaloglu A, Besbas N, van den Heuvel L, Kleta R, Gahl WA.

Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24.


Cystinosis: practical tools for diagnosis and treatment.

Wilmer MJ, Schoeber JP, van den Heuvel LP, Levtchenko EN.

Pediatr Nephrol. 2011 Feb;26(2):205-15. doi: 10.1007/s00467-010-1627-6. Epub 2010 Aug 24. Review.


Craniofacial and dental findings in cystinosis.

Bassim CW, Gautam P, Domingo DL, Balog JZ, Guadagnini JP, Gahl WA, Hart TC.

Oral Dis. 2010 Jul;16(5):488-95. doi: 10.1111/j.1601-0825.2010.01662.x. Epub 2010 Mar 9.


Simultaneous estimation of tongue volume and fat fraction using IDEAL-FSE.

Humbert IA, Reeder SB, Porcaro EJ, Kays SA, Brittain JH, Robbins J.

J Magn Reson Imaging. 2008 Aug;28(2):504-8. doi: 10.1002/jmri.21431.


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