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References
These sources were used to develop the Genetics Home Reference
condition summary
on cystinosis.
Delgado G, Schatz A, Nichols S, Appelbaum M, Trauner D. Behavioral profiles of children with infantile nephropathic cystinosis. Dev Med Child Neurol. 2005 Jun;47(6):403-7.
PubMed citation
Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002 Jul 11;347(2):111-21. Review. No abstract available.
PubMed citation
Kalatzis V, Antignac C. New aspects of the pathogenesis of cystinosis. Pediatr Nephrol. 2003 Mar;18(3):207-15. Epub 2003 Feb 27. Review.
PubMed citation
Kleta R, Gahl WA. Cystinosis: antibodies and healthy bodies. J Am Soc Nephrol. 2002 Aug;13(8):2189-91. Review. No abstract available.
PubMed citation
Kleta R, Gahl WA. Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opin Pharmacother. 2004 Nov;5(11):2255-62. Review.
PubMed citation
Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA; NIH Office of Rare Diseases. First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future. Pediatr Nephrol. 2005 Apr;20(4):452-4. Epub 2005 Jan 27. Review. No abstract available.
PubMed citation
Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. 2007 Nov 16; [Epub ahead of print].
PubMed citation
Servais A, Morinière V, Grünfeld JP, Noël LH, Goujon JM, Chadefaux-Vekemans B, Antignac C. Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping. Clin J Am Soc Nephrol. 2008 Jan;3(1):27-35.
PubMed citation
Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA. Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine (Baltimore). 2005 May;84(3):137-46.
PubMed citation
Tsilou E, Zhou M, Gahl W, Sieving PC, Chan CC. Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature. Surv Ophthalmol. 2007 Jan-Feb;52(1):97-105. Review.
PubMed citation
Reviewed: February 2008
Published: November 20, 2009
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