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Items: 10

1.

Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).

Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, Green ED, Gahl WA.

Mol Genet Metab. 1999 Feb;66(2):111-6.

PMID:
10068513
2.

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA.

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

PMID:
10571941
3.

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
4.

[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
5.

Cystinosis: from gene to disease.

Kalatzis V, Antignac C.

Nephrol Dial Transplant. 2002 Nov;17(11):1883-6. Review. No abstract available.

PMID:
12401840
6.

[Cystinosis].

Ohno K.

Ryoikibetsu Shokogun Shirizu. 2000;(29 Pt 4):484-5. Review. Japanese. No abstract available.

PMID:
11032002
7.

[Cystinosis: from cystine crystals to the cystinosin].

Pintos G.

Nefrologia. 2003;23 Suppl 1:60-70. Review. Spanish. No abstract available.

8.

Cystinosis.

Gahl WA, Thoene JG, Schneider JA.

N Engl J Med. 2002 Jul 11;347(2):111-21. Review. No abstract available.

PMID:
12110740
9.

New aspects of the pathogenesis of cystinosis.

Kalatzis V, Antignac C.

Pediatr Nephrol. 2003 Mar;18(3):207-15. Epub 2003 Feb 27. Review.

PMID:
12644911
10.

Cystinosis: antibodies and healthy bodies.

Kleta R, Gahl WA.

J Am Soc Nephrol. 2002 Aug;13(8):2189-91. Review. No abstract available.

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