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Cystinosis.

作者信息

Gahl William A, Thoene Jess G, Schneider Jerry A

机构信息

Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Md 20892-1830, USA.

出版信息

N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552.

DOI:10.1056/NEJMra020552

PMID:12110740

Abstract

摘要

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Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.

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Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.

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Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care.

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相似文献

Cystinosis.

N Engl J Med. 2002 Jul 11;347(2):111-21. doi: 10.1056/NEJMra020552.

[Cystinosis: from cystine crystals to the cystinosin].

Nefrologia. 2003;23 Suppl 1:60-70.

[From gene to disease: cystinosis].

Ned Tijdschr Geneeskd. 2004 Mar 6;148(10):476-8.

[Cystinosis].

Ryoikibetsu Shokogun Shirizu. 2000(29 Pt 4):484-5.

Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):100-20. doi: 10.1006/mgme.2000.3062.

CTNS mutations in patients with cystinosis.

Hum Mutat. 1999;14(6):454-8. doi: 10.1002/(SICI)1098-1004(199912)14:6<454::AID-HUMU2>3.0.CO;2-H.

[Cystinosis: cystine accumulation due to deficiency in translisosomal transport].

Med Clin (Barc). 2004 Jun 19;123(3):95-6. doi: 10.1016/s0025-7753(04)74424-3.

Cystinosis: from gene to disease.

Nephrol Dial Transplant. 2002 Nov;17(11):1883-6. doi: 10.1093/ndt/17.11.1883.

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Hum Mol Genet. 2004 Jul 1;13(13):1361-71. doi: 10.1093/hmg/ddh152. Epub 2004 May 5.

Mutations of CTNS causing intermediate cystinosis.

Mol Genet Metab. 1999 Aug;67(4):283-93. doi: 10.1006/mgme.1999.2876.

引用本文的文献

Diagnosis and management of cystinosis: systematic review for a clinical practice guideline.

Orphanet J Rare Dis. 2025 Aug 28;20(1):463. doi: 10.1186/s13023-025-03974-z.

Local Guidance on the Management of Nephropathic Cystinosis in the Gulf Cooperation Council (GCC) Region.

Children (Basel). 2025 Jul 28;12(8):992. doi: 10.3390/children12080992.

JIP4 deficiency causes a lysosomal storage disease arising from impaired cystine efflux.

bioRxiv. 2025 Jun 8:2025.06.06.657909. doi: 10.1101/2025.06.06.657909.

Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4-year-old: A case report.

Med Int (Lond). 2025 May 14;5(4):43. doi: 10.3892/mi.2025.242. eCollection 2025 Jul-Aug.

Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.

BMC Genom Data. 2025 May 15;26(1):35. doi: 10.1186/s12863-025-01325-2.

Long-term outcomes in nephropathic cystinosis: a review.

Pediatr Nephrol. 2025 May 14. doi: 10.1007/s00467-025-06790-6.

Native kidney and graft survival in a cohort of Egyptian children with nephropathic cystinosis: national referral center experience.

Ital J Pediatr. 2025 Apr 7;51(1):110. doi: 10.1186/s13052-025-01943-7.

Genetics in Kidney Diseases.

Adv Kidney Dis Health. 2025 Jan;32(1):33-40. doi: 10.1053/j.akdh.2024.10.003.

Impact of Early Versus Late Diagnosis on Disease Progression in Cystinosis.

Kidney Int Rep. 2025 Mar 4;10(3 Suppl):S779-S783. doi: 10.1016/j.ekir.2024.10.037. eCollection 2025 Mar.

Optimizing Long-Term Outcomes in Cystinosis With Comprehensive Patient-Centered Care.

Kidney Int Rep. 2025 Mar 4;10(3 Suppl):S775-S778. doi: 10.1016/j.ekir.2024.10.038. eCollection 2025 Mar.

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Cystinosis.

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