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Items: 18

1.

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.

2.

Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.

Ivanova EA, De Leo MG, Van Den Heuvel L, Pastore A, Dijkman H, De Matteis MA, Levtchenko EN.

PLoS One. 2015 Mar 26;10(3):e0120998. doi: 10.1371/journal.pone.0120998. eCollection 2015.

3.

A mouse model suggests two mechanisms for thyroid alterations in infantile cystinosis: decreased thyroglobulin synthesis due to endoplasmic reticulum stress/unfolded protein response and impaired lysosomal processing.

Gaide Chevronnay HP, Janssens V, Van Der Smissen P, Liao XH, Abid Y, Nevo N, Antignac C, Refetoff S, Cherqui S, Pierreux CE, Courtoy PJ.

Endocrinology. 2015 Jun;156(6):2349-64. doi: 10.1210/en.2014-1672. Epub 2015 Mar 26.

4.

Treatment of corneal cystine crystal accumulation in patients with cystinosis.

Shams F, Livingstone I, Oladiwura D, Ramaesh K.

Clin Ophthalmol. 2014 Oct 10;8:2077-84. doi: 10.2147/OPTH.S36626. eCollection 2014. Review.

5.

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.

6.

Improving the prognosis of nephropathic cystinosis.

Besouw MT, Levtchenko EN.

Int J Nephrol Renovasc Dis. 2014 Jul 17;7:297-302. doi: 10.2147/IJNRD.S37603. eCollection 2014. Review.

7.

Successful management of a neglected case of nephropathic cystinosis.

El-Naggari MA, Elnour I, Al-Kindy H, Al-Shahrabally A, Abdelmogheth AA.

Sultan Qaboos Univ Med J. 2014 May;14(2):e245-8. Epub 2014 Apr 7.

8.

Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.

Soliman NA, Elmonem MA, van den Heuvel L, Abdel Hamid RH, Gamal M, Bongaers I, Marie S, Levtchenko E.

JIMD Rep. 2014;14:87-97. doi: 10.1007/8904_2013_288. Epub 2014 Jan 25.

9.

Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.

Al-Haggar M.

World J Nephrol. 2013 Nov 6;2(4):94-102. doi: 10.5527/wjn.v2.i4.94.

10.

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.

11.

Improvement in the renal prognosis in nephropathic cystinosis.

Van Stralen KJ, Emma F, Jager KJ, Verrina E, Schaefer F, Laube GF, Lewis MA, Levtchenko EN.

Clin J Am Soc Nephrol. 2011 Oct;6(10):2485-91. doi: 10.2215/CJN.02000311. Epub 2011 Aug 25.

12.

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.

13.

Mitochondrial energetics and therapeutics.

Wallace DC, Fan W, Procaccio V.

Annu Rev Pathol. 2010;5:297-348. doi: 10.1146/annurev.pathol.4.110807.092314. Review.

14.

Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion.

Fidler MC, Barshop BA, Gangoiti JA, Deutsch R, Martin M, Schneider JA, Dohil R.

Br J Clin Pharmacol. 2007 Jan;63(1):36-40.

15.

Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.

Tsilou E, Zhou M, Gahl W, Sieving PC, Chan CC.

Surv Ophthalmol. 2007 Jan-Feb;52(1):97-105. Review.

16.

A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.

Tsilou ET, Thompson D, Lindblad AS, Reed GF, Rubin B, Gahl W, Thoene J, Del Monte M, Schneider JA, Granet DB, Kaiser-Kupfer MI.

Br J Ophthalmol. 2003 Jan;87(1):28-31.

17.
18.

CTNS mutations in an American-based population of cystinosis patients.

Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA.

Am J Hum Genet. 1998 Nov;63(5):1352-62.

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