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The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.人类基因突变数据库:为临床和分子遗传学、诊断测试以及个性化基因组医学构建全面的基因突变知识库。
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Uric acid and the kidney.尿酸与肾脏
Pediatr Nephrol. 2014 Jun;29(6):999-1008. doi: 10.1007/s00467-013-2549-x. Epub 2013 Jul 4.
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Hereditary causes of kidney stones and chronic kidney disease.遗传性肾结石和慢性肾脏病的病因。
Pediatr Nephrol. 2013 Oct;28(10):1923-42. doi: 10.1007/s00467-012-2329-z. Epub 2013 Jan 20.
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Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child.鉴定一名阿富汗儿童患黄嘌呤氧化酶缺乏症 I 型,其黄嘌呤脱氢酶存在突变。
Clin Chim Acta. 2012 Dec 24;414:158-60. doi: 10.1016/j.cca.2012.08.011. Epub 2012 Aug 17.
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Adenine phosphoribosyltransferase deficiency.腺嘌呤磷酸核糖基转移酶缺乏症。
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Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient.黄嘌呤氧化酶缺乏症伴新型序列变异,以类风湿关节炎为表现,见于 78 岁患者。
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S21-4. doi: 10.1007/s10545-009-9011-z. Epub 2010 Jan 14.
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Diagnostic examination of the child with urolithiasis or nephrocalcinosis.儿童尿石症或肾钙质沉着症的诊断检查。
Pediatr Nephrol. 2010 Mar;25(3):403-13. doi: 10.1007/s00467-008-1073-x. Epub 2008 Dec 23.
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Uric acid changes in urine and plasma: an effective tool in screening for purine inborn errors of metabolism and other pathological conditions.尿液和血浆中尿酸的变化:筛查嘌呤先天性代谢缺陷及其他病理状况的有效工具。
J Inherit Metab Dis. 2007 Jun;30(3):295-309. doi: 10.1007/s10545-007-0455-8. Epub 2007 May 19.
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Xanthinuria type I: a rare cause of urolithiasis.I型黄嘌呤尿症:尿石症的罕见病因。
Pediatr Nephrol. 2007 Feb;22(2):310-4. doi: 10.1007/s00467-006-0267-3. Epub 2006 Nov 9.
10
The clinical art and science of urine microscopy.尿液显微镜检查的临床技术与科学
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An unusual cause of "pink diaper" in an infant: Answers.

作者信息

Amin Rasheda, Eid Loai, Edvardsson Vidar O, Fairbanks Lynette, Moudgil Asha

机构信息

Division of Pediatric Nephrology, Children's National Health System, 111 Michigan Avenue NW, Washington, DC, 20010, USA.

Division of Pediatrics, Latifa Hospital, Dubai, United Arab Emirates.

出版信息

Pediatr Nephrol. 2016 Apr;31(4):577-80. doi: 10.1007/s00467-015-3073-y. Epub 2015 Apr 1.

DOI:10.1007/s00467-015-3073-y
PMID:25823988
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4591240/
Abstract
摘要