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Items: 1 to 20 of 563

1.

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
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.

3.

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.

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.

A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis.

Iwata F, Kuehl EM, Reed GF, McCain LM, Gahl WA, Kaiser-Kupfer MI.

Mol Genet Metab. 1998 Aug;64(4):237-42.

PMID:
9758713
6.

[Cysteamine eyedrops for treatment of corneal cysteine deposits in infantile cystinosis].

Gräf M, Grote A, Wagner F.

Klin Monbl Augenheilkd. 1992 Jul;201(1):48-50. German.

PMID:
1513127
7.

Removal of corneal crystals by topical cysteamine in nephropathic cystinosis.

Kaiser-Kupfer MI, Fujikawa L, Kuwabara T, Jain S, Gahl WA.

N Engl J Med. 1987 Mar 26;316(13):775-9.

PMID:
3821824
8.

Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy.

Tavares R, Coelho D, Macário MC, Torres A, Quadrado MJ, Murta J.

Cornea. 2009 Sep;28(8):938-40. doi: 10.1097/ICO.0b013e318199eb5b.

PMID:
19654516
9.

Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine.

Dureau P, Broyer M, Dufier JL.

J Pediatr Ophthalmol Strabismus. 2003 May-Jun;40(3):142-6.

PMID:
12795432
10.

A new gel formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis: the Cystadrops OCT-1 study.

Labbé A, Baudouin C, Deschênes G, Loirat C, Charbit M, Guest G, Niaudet P.

Mol Genet Metab. 2014 Mar;111(3):314-20. doi: 10.1016/j.ymgme.2013.12.298. Epub 2014 Jan 9.

PMID:
24440466
11.

In vivo confocal microscopy and anterior segment optical coherence tomography analysis of the cornea in nephropathic cystinosis.

Labbé A, Niaudet P, Loirat C, Charbit M, Guest G, Baudouin C.

Ophthalmology. 2009 May;116(5):870-6. doi: 10.1016/j.ophtha.2008.11.021.

PMID:
19410944
12.

Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy.

Simpson JL, Nien CJ, Flynn KJ, Jester JV.

Mol Vis. 2011;17:2649-54. Epub 2011 Oct 8.

13.

A randomised placebo-controlled trial of topical cysteamine therapy in patients with nephropathic cystinosis.

Bradbury JA, Danjoux JP, Voller J, Spencer M, Brocklebank T.

Eye (Lond). 1991;5 ( Pt 6):755-60.

PMID:
1800180
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.

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA.

Hum Mutat. 1999;14(6):454-8. Review.

PMID:
10571941
16.

Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.

Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA.

Pediatr Res. 2000 Jan;47(1):17-23.

PMID:
10625078
17.

Spatial and temporal sequence of corneal crystal deposition in nephropathic cystinosis.

Melles RB, Schneider JA, Rao NA, Katz B.

Am J Ophthalmol. 1987 Dec 15;104(6):598-604.

PMID:
3688102
18.

Pharmacological treatment of nephropathic cystinosis with cysteamine.

Kleta R, Gahl WA.

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

PMID:
15500372
19.

Clearance of corneal crystals in nephropathic cystinosis by topical cysteamine 0.5%.

Jones NP, Postlethwaite RJ, Noble JL.

Br J Ophthalmol. 1991 May;75(5):311-2.

20.

The effect of topical cysteamine drops on reducing crystal formation within the cornea of patients affected by nephropathic cystinosis.

MacDonald IM, Noel LP, Mintsioulis G, Clarke WN.

J Pediatr Ophthalmol Strabismus. 1990 Sep-Oct;27(5):272-4.

PMID:
2246744

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