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Results: 15

1.

Mutations of CTNS causing intermediate cystinosis.

Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT.

Mol Genet Metab. 1999 Aug;67(4):283-93.

PMID:
10444339
[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.

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]
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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
Free Article
6.

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]
7.

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]
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 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]
10.

Cystinosis: antibodies and healthy bodies.

Kleta R, Gahl WA.

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

PMID:
12138155
[PubMed - indexed for MEDLINE]
Free Article
11.

Sialic acid storage disease and related disorders.

Strehle EM.

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

PMID:
12885332
[PubMed - indexed for MEDLINE]
12.

Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.

Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.

Clin Endocrinol (Oxf). 2005 May;62(5):547-53. Review.

PMID:
15853823
[PubMed - indexed for MEDLINE]
13.

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]
14.

Recent progress in our knowledge of cystinosis.

Kroll W, Schneider JA.

Clin Endocrinol Metab. 1974 Mar;3(1):57-69. Review. No abstract available.

PMID:
4609649
[PubMed - indexed for MEDLINE]
15.

[Cystinosis].

Wada Y.

Ryoikibetsu Shokogun Shirizu. 1995;(8):337-40. Review. Japanese. No abstract available.

PMID:
8581646
[PubMed - indexed for MEDLINE]

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