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Results: 17

1.

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.

Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac C.

Nat Genet. 1998 Apr;18(4):319-24.

PMID:
9537412
[PubMed - indexed for MEDLINE]
2.

CTNS mutations in patients with cystinosis.

Anikster Y, Shotelersuk V, Gahl WA.

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

PMID:
10571941
[PubMed - indexed for MEDLINE]
3.

[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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Clinical and molecular aspects of nephropathic cystinosis.

McDowell GA, Town MM, van't Hoff W, Gahl WA.

J Mol Med (Berl). 1998 Apr;76(5):295-302. Review.

PMID:
9587063
[PubMed - indexed for MEDLINE]
6.

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]
7.

[Cystinosis: from cystine crystals to the cystinosin].

Pintos G.

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

PMID:
12708365
[PubMed - indexed for MEDLINE]
8.

[Cystinosis].

Ohno K.

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

PMID:
11032002
[PubMed - indexed for MEDLINE]
9.

Cystinosis: from gene to disease.

Kalatzis V, Antignac C.

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

PMID:
12401840
[PubMed - indexed for MEDLINE]
Free Article
10.

Sialic acid storage disease and related disorders.

Strehle EM.

Genet Test. 2003 Summer;7(2):113-21. Review.

PMID:
12885332
[PubMed - indexed for MEDLINE]
11.

Nephropathic cystinosis: an international consensus document.

Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P, Janssen MC, Greco M, Topaloglu R, Elenberg E, Dohil R, Trauner D, Antignac C, Cochat P, Kaskel F, Servais A, Wühl E, Niaudet P, Van't Hoff W, Gahl W, Levtchenko E.

Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94. doi: 10.1093/ndt/gfu090.

PMID:
25165189
[PubMed - indexed for MEDLINE]
12.

The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.

Wilmer MJ, Emma F, Levtchenko EN.

Am J Physiol Renal Physiol. 2010 Nov;299(5):F905-16. doi: 10.1152/ajprenal.00318.2010. Epub 2010 Sep 8. Review.

PMID:
20826575
[PubMed - indexed for MEDLINE]
Free Article
13.

Cystinosis.

Gahl WA, Thoene JG, Schneider JA.

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

PMID:
12110740
[PubMed - indexed for MEDLINE]
14.

Cystinosis.

Thoene JG.

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

PMID:
7494397
[PubMed - indexed for MEDLINE]
15.

Cystinosis: the evolution of a treatable disease.

Nesterova G, Gahl WA.

Pediatr Nephrol. 2013 Jan;28(1):51-9. doi: 10.1007/s00467-012-2242-5. Epub 2012 Aug 18. Review.

PMID:
22903658
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Cystinosis.

Schulman JD.

Prog Clin Biol Res. 1989;305:137-44. Review. No abstract available.

PMID:
2668970
[PubMed - indexed for MEDLINE]
17.

[Hereditary diseases of the kidney].

Hildebrandt F, Weber M, Brandis M.

Internist (Berl). 1995 Mar;36(3):254-62. Review. German. No abstract available.

PMID:
7737818
[PubMed - indexed for MEDLINE]

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