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Items: 1 to 20 of 126

1.

Nephropathic Cystinosis: First reported case in Oman.

Al-Nabhani D, El-Naggari M, Al-Sinawi R, Chacko AP, Ganesh A, El Nour I.

Sultan Qaboos Univ Med J. 2011 Nov;11(4):503-6. Epub 2011 Oct 25.

2.

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.

3.

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.

4.

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
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.

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
7.

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis.

More V, Shanbag P.

Saudi J Kidney Dis Transpl. 2016 May;27(3):598-601. doi: 10.4103/1319-2442.182438.

8.

Pharmacological treatment of nephropathic cystinosis with cysteamine.

Kleta R, Gahl WA.

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

PMID:
15500372
9.

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.

10.

Cystinosis.

Thoene JG.

J Inherit Metab Dis. 1995;18(4):380-6. Review.

PMID:
7494397
11.

[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
12.

Nephropathic cystinosis: late complications of a multisystemic disease.

Nesterova G, Gahl W.

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

PMID:
18008091
13.

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

Zachwieja J.

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

PMID:
16898482
14.

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
15.
16.

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.

17.

Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis.

Cherqui S, Sevin C, Hamard G, Kalatzis V, Sich M, Pequignot MO, Gogat K, Abitbol M, Broyer M, Gubler MC, Antignac C.

Mol Cell Biol. 2002 Nov;22(21):7622-32.

18.

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.

19.

Chitotriosidase plasma activity in nephropathic cystinosis.

Xaidara A, Karavitakis EM, Kosma K, Emma F, Dimitriou E, Michelakakis H.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S157-9. doi: 10.1007/s10545-009-1118-8. Epub 2009 May 20.

PMID:
19455402
20.

A potential new prodrug for the treatment of cystinosis: design, synthesis and in-vitro evaluation.

McCaughan B, Kay G, Knott RM, Cairns D.

Bioorg Med Chem Lett. 2008 Mar 1;18(5):1716-9. doi: 10.1016/j.bmcl.2008.01.039. Epub 2008 Jan 18.

PMID:
18249536
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