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1.

Pharmacological treatment of nephropathic cystinosis with cysteamine.

Kleta R, Gahl WA.

Expert Opin Pharmacother. 2004 Nov;5(11):2255-62. Review.

PMID:
15500372
2.

Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.

Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA.

Medicine (Baltimore). 2005 May;84(3):137-46.

PMID:
15879904
3.

Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.

Gahl WA, Balog JZ, Kleta R.

Ann Intern Med. 2007 Aug 21;147(4):242-50.

PMID:
17709758
4.

NIH conference. Cystinosis: progress in a prototypic disease.

Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T.

Ann Intern Med. 1988 Oct 1;109(7):557-69. Review.

PMID:
3048161
5.

Follow-up and treatment of adults with cystinosis in the Netherlands.

Geelen JM, Monnens LA, Levtchenko EN.

Nephrol Dial Transplant. 2002 Oct;17(10):1766-70.

6.

FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.

Bendavid C, Kleta R, Long R, Ouspenskaia M, Muenke M, Haddad BR, Gahl WA.

Hum Genet. 2004 Nov;115(6):510-4. Epub 2004 Sep 9.

PMID:
15365816
7.

Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.

Tsilou ET, Rubin BI, Reed G, Caruso RC, Iwata F, Balog J, Gahl WA, Kaiser-Kupfer MI.

Ophthalmology. 2006 Jun;113(6):1002-9. Epub 2006 Apr 17.

PMID:
16603246
8.

Nephropathic cystinosis in children: An overlooked disease.

Soliman NA, El-Baroudy R, Rizk A, Bazaraa H, Younan A.

Saudi J Kidney Dis Transpl. 2009 May;20(3):436-42.

9.

Early oral cysteamine therapy for nephropathic cystinosis.

Gahl WA.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S38-41. Epub 2003 Nov 11. Review.

PMID:
14610675
10.

Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):100-20. Review.

PMID:
11001803
11.

Nephropathic cystinosis: late complications of a multisystemic disease.

Nesterova G, Gahl W.

Pediatr Nephrol. 2008 Jun;23(6):863-78. Review.

PMID:
18008091
12.

Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients.

Bouazza N, Tréluyer JM, Ottolenghi C, Urien S, Deschenes G, Ricquier D, Niaudet P, Chadefaux-Vekemans B.

Orphanet J Rare Dis. 2011 Dec 23;6:86. doi: 10.1186/1750-1172-6-86.

13.

Negligible urinary cysteamine loss in cystinosis patients with Fanconi syndrome.

Levtchenko EN, de Graaf-Hess A, Blom HJ, Monnens LA.

Clin Nephrol. 2002 May;57(5):349-51.

PMID:
12036193
14.

[From gene to disease: cystinosis].

Levtchenko EN, Wilmer M, de Graaf-Hess AC, van den Heuvel LP, Blom H, Monnens LA.

Ned Tijdschr Geneeskd. 2004 Mar 6;148(10):476-8. Review. Dutch.

PMID:
15042893
15.

[Cystinosis--an orphan disease. Pathogenesis and current treatment].

Zachwieja J.

Przegl Lek. 2006;63 Suppl 3:29-31. Review. Polish.

PMID:
16898482
16.

Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis.

Levtchenko EN, van Dael CM, de Graaf-Hess AC, Wilmer MJ, van den Heuvel LP, Monnens LA, Blom HJ.

Pediatr Nephrol. 2006 Jan;21(1):110-3. Epub 2005 Oct 27.

PMID:
16252107
17.

Parenchymal organ cystine depletion with long-term cysteamine therapy.

Gahl WA, Charnas L, Markello TC, Bernardini I, Ishak KG, Dalakas MC.

Biochem Med Metab Biol. 1992 Dec;48(3):275-85.

PMID:
1476793
18.

Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults.

Brodin-Sartorius A, Tête MJ, Niaudet P, Antignac C, Guest G, Ottolenghi C, Charbit M, Moyse D, Legendre C, Lesavre P, Cochat P, Servais A.

Kidney Int. 2012 Jan;81(2):179-89. doi: 10.1038/ki.2011.277. Epub 2011 Sep 7.

PMID:
21900880
19.

Report of a Brazilian multicenter study on nephropathic cystinosis.

Vaisbich MH, Koch VH.

Nephron Clin Pract. 2010;114(1):c12-8. doi: 10.1159/000245065. Epub 2009 Oct 9.

PMID:
19816039
20.

Cystinosis.

Nesterova G, Gahl WA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2001 Mar 22 [updated 2014 Jan 30].

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