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An unusual cause of pink diapers in an infant: Questions and 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):575, 577-80. doi: 10.1007/s00467-015-3072-z. Epub 2015 Apr 1.

DOI:10.1007/s00467-015-3072-z
PMID:25823987
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4591217/
Abstract
摘要

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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。
Hum Genet. 2014 Jan;133(1):1-9. doi: 10.1007/s00439-013-1358-4.
2
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.
3
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.
4
Adenine phosphoribosyltransferase deficiency in children.儿童腺嘌呤磷酸核糖基转移酶缺乏症。
Pediatr Nephrol. 2012 Apr;27(4):571-9. doi: 10.1007/s00467-011-2037-0. Epub 2012 Jan 3.
5
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J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S21-4. doi: 10.1007/s10545-009-9011-z. Epub 2010 Jan 14.
6
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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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.
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The clinical art and science of urine microscopy.尿液显微镜检查的临床技术与科学
Curr Opin Nephrol Hypertens. 2003 Nov;12(6):625-32. doi: 10.1097/00041552-200311000-00009.
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Nephrol Dial Transplant. 2003 Nov;18(11):2278-83. doi: 10.1093/ndt/gfg385.
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