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Items: 1 to 20 of 157

1.

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
2.

Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy.

Nesterova G, Williams C, Bernardini I, Gahl WA.

Pediatr Nephrol. 2015 Jun;30(6):945-51. doi: 10.1007/s00467-014-3018-x. Epub 2014 Dec 20.

PMID:
25526929
3.

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
4.

Pharmacological treatment of nephropathic cystinosis with cysteamine.

Kleta R, Gahl WA.

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

PMID:
15500372
5.

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.

6.

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.

7.

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
8.

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

Zachwieja J.

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

PMID:
16898482
9.

Cysteamine therapy for children with nephropathic cystinosis.

Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, Denman DW, Schlesselman JJ, Corden BJ, Schneider JA.

N Engl J Med. 1987 Apr 16;316(16):971-7.

PMID:
3550461
10.

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
11.

Cystine depletion of cystinotic tissues by phosphocysteamine (WR638).

Thoene JG, Lemons R.

J Pediatr. 1980 Jun;96(6):1043-4. No abstract available.

PMID:
7373465
12.

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.

13.

Long-term treatment of infantile nephropathic cystinosis with cysteamine.

da Silva VA, Zurbrügg RP, Lavanchy P, Blumberg A, Suter H, Wyss SR, Lüthy CM, Oetliker OH.

N Engl J Med. 1985 Dec 5;313(23):1460-3. No abstract available.

PMID:
4058549
14.

Intravenous cysteamine therapy for nephropathic cystinosis.

Gahl WA, Ingelfinger J, Mohan P, Bernardini I, Hyman PE, Tangerman A.

Pediatr Res. 1995 Oct;38(4):579-84.

PMID:
8559613
15.

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.

16.

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
17.

Suppository formulations as a potential treatment for nephropathic cystinosis.

Buchan B, Kay G, Matthews KH, Cairns D.

J Pharm Sci. 2012 Oct;101(10):3729-38. doi: 10.1002/jps.23246. Epub 2012 Jul 6.

PMID:
22778070
18.

Long-term treatment of cystinosis in children with twice-daily cysteamine.

Dohil R, Gangoiti JA, Cabrera BL, Fidler M, Schneider JA, Barshop BA.

J Pediatr. 2010 May;156(5):823-7. doi: 10.1016/j.jpeds.2009.11.059. Epub 2010 Feb 6.

PMID:
20138296
19.

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
20.

[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
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