End-stage renal failure as manifestation of adolescent cystinosis.

作者信息

Marx Michaela, Plank Christian, Zimmermann Bettina, Graupner Maike, Kiehntopf Michael, Dötsch Jörg

机构信息

Department of Paediatrics and Adolescent Medicine, Friedrich-Alexander University, Loschgestrasse 25, 91054 Erlangen, Germany.

出版信息

Eur J Pediatr. 2004 Apr;163(4-5):260-1. doi: 10.1007/s00431-003-1395-4. Epub 2004 Feb 7.

DOI:10.1007/s00431-003-1395-4

PMID:14767763

Abstract

摘要

相似文献

End-stage renal failure as manifestation of adolescent cystinosis.

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Adv Nephrol Necker Hosp. 1981;10:137-66.

[Adolescent cystinosis. Review of the literature and case report (author's transl)].[青少年胱氨酸病。文献综述与病例报告（作者译）]

Klin Padiatr. 1979 Jan;191(1):8-19.

Early onset of chronic renal failure in infantile nephropathic cystinosis.婴儿型肾病性胱氨酸病中慢性肾衰竭的早期发病。

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Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosis.早发性慢性肾衰竭作为婴儿型肾病性胱氨酸病的一种表现形式。

Pediatr Nephrol. 1995 Aug;9(4):483-4. doi: 10.1007/BF00866736.

Dental findings in a child with chronic renal failure secondary to cystinosis.一名继发于胱氨酸病的慢性肾衰竭儿童的牙科检查结果

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Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis.一名患有婴儿型肾病性胱氨酸病的患者早期出现终末期肾病

J Pediatr. 1992 Apr;120(4 Pt 1):575-8. doi: 10.1016/s0022-3476(05)82486-2.

[Renal transplantation in cystinosis. Report of a case].[胱氨酸病的肾移植。一例报告]

AMB Rev Assoc Med Bras. 1980 May;26(5):168-70.

Cystinosis: a diagnostic problem.胱氨酸病：一个诊断难题。

Pediatr Ann. 1979 Jul;8(7):462-3.

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Natural history of adolescent-onset cystinosis.青少年型胱氨酸病的自然史。

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Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.迟发性肾病型胱氨酸病：临床表现、预后及基因分型

Clin J Am Soc Nephrol. 2008 Jan;3(1):27-35. doi: 10.2215/CJN.01740407.

本文引用的文献

CTNS mutations in patients with cystinosis.胱氨酸病患者的CTNS基因突变

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

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.胱氨酸病的表型严重程度因CTNS基因突变而异：对胱氨酸转运蛋白模型的预测影响。

Hum Mol Genet. 1999 Dec;8(13):2507-14. doi: 10.1093/hmg/8.13.2507.

CTNS mutations in an American-based population of cystinosis patients.美国胱氨酸病患者群体中的CTNS基因突变。

Am J Hum Genet. 1998 Nov;63(5):1352-62. doi: 10.1086/302118.

Adolescent cystinosis: renal function and morphology.

Eur J Pediatr. 1982 Jul;138(4):354-7. doi: 10.1007/BF00442518.

Renal failure in a sibship with late-onset cystinosis.患有迟发性胱氨酸病的同胞中的肾衰竭。

J Pediatr. 1985 Nov;107(5):755-6. doi: 10.1016/s0022-3476(85)80410-8.

[Longitudinal physical development of healthy children 0 to 18 years of age. Body length/height, body weight and growth velocity].[0至18岁健康儿童的纵向身体发育。身长/身高、体重及生长速度]

Klin Padiatr. 1992 May-Jun;204(3):129-33. doi: 10.1055/s-2007-1025337.

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