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Results: 1 to 20 of 475

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Pharmacological treatment of nephropathic cystinosis with cysteamine.

Kleta R, Gahl WA.

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

PMID:
15500372
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
12270982
[PubMed - indexed for MEDLINE]
Free Article
7.

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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis.

Tsilou ET, Rubin BI, Reed GF, Iwata F, Gahl W, Kaiser-Kupfer MI.

Cornea. 2002 Mar;21(2):173-6.

PMID:
11862089
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Nephropathic cystinosis: ineffectiveness of cysteamine therapy for ocular changes.

Cantani A, Giardini O, Ciarnella Cantani A.

Am J Ophthalmol. 1983 May;95(5):713-4.

PMID:
6846466
[PubMed - indexed for MEDLINE]
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.

PMID:
19414947
[PubMed - indexed for MEDLINE]
Free Article
13.

Long-term ocular manifestations in nephropathic cystinosis.

Kaiser-Kupfer MI, Caruso RC, Minkler DS, Gahl WA.

Arch Ophthalmol. 1986 May;104(5):706-11.

PMID:
3518682
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

Ocular changes in long-term evolution of infantile cystinosis.

Dufier JL, Dhermy P, Gubler MC, Gagnadoux MF, Broyer M.

Ophthalmic Paediatr Genet. 1987 Jun;8(2):131-7.

PMID:
3658340
[PubMed - indexed for MEDLINE]
16.

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.

PMID:
22195601
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Adverse reactions to oral cysteamine use in nephropathic cystinosis.

Corden BJ, Schulman JD, Schneider JA, Thoene JG.

Dev Pharmacol Ther. 1981;3(1):25-30.

PMID:
7307866
[PubMed - indexed for MEDLINE]
18.

A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis.

Kaiser-Kupfer MI, Gazzo MA, Datiles MB, Caruso RC, Kuehl EM, Gahl WA.

Arch Ophthalmol. 1990 May;108(5):689-93.

PMID:
2185723
[PubMed - indexed for MEDLINE]
19.

Ocular manifestations of nephropathic cystinosis. The French-Canadian experience in a genetically homogeneous population.

Richler M, Milot J, Quigley M, O'Regan S.

Arch Ophthalmol. 1991 Mar;109(3):359-62.

PMID:
2003795
[PubMed - indexed for MEDLINE]
20.

Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.

Tyni T, Kivelä T, Lappi M, Summanen P, Nikoskelainen E, Pihko H.

Ophthalmology. 1998 May;105(5):810-24.

PMID:
9593380
[PubMed - indexed for MEDLINE]

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