Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.

Suppr

超能文献

作者信息

Gasperini Serena, Stagi Stefano, Gasperini Ugo, Guerrini Renzo, la Marca Giancarlo, Donati Maria Alice

出版信息

Pediatr Nephrol. 2010 Nov;25(11):2373-4. doi: 10.1007/s00467-010-1557-3. Epub 2010 Jun 2.

DOI:10.1007/s00467-010-1557-3

PMID:20517618

Abstract

摘要

相似文献

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.

Pediatr Nephrol. 2010 Nov;25(11):2373-4. doi: 10.1007/s00467-010-1557-3. Epub 2010 Jun 2.

Orange-colored diapers in infants from families with gout.

Pediatr Nephrol. 2011 Jun;26(6):997. doi: 10.1007/s00467-011-1774-4. Epub 2011 Jan 30.

Lesch-Nyhan Syndrome: report on two brothers.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994 Nov-Dec;35(6):552-8.

A 2-year-old male with developmental delay, irritability, and failure to thrive.

Pediatr Ann. 2008 Jul;37(7):459-60, 463. doi: 10.3928/00904481-20080701-01.

[Urinary lithiasis revealing Lesch-Nyhan syndrome].

Nouv Presse Med. 1973 Jun 9;2(23):1571-4.

The Lesch-Nyhan syndrome. Metabolic studies during administration of adenine.莱施-奈恩综合征。给予腺嘌呤期间的代谢研究。

Z Kinderheilkd. 1973 Apr 4;114(2):119-30. doi: 10.1007/BF00440499.

Clinical quiz. Lesch-Nyhan syndrome.

Pediatr Nephrol. 1991 Nov;5(6):758-60. doi: 10.1007/BF00857892.

[Teachings concerning congenital hyperuricemia. Lesch-Nyhan syndrome].

Nouv Presse Med. 1973 Feb 17;2(7):439-41.

[Lesch-Nyhan syndrome].

Orv Hetil. 1974 Dec 29;115(52):3102-4.

The Lesch-Nyhan syndrome: a family study.

N Z Med J. 1977 Dec 14;86(601):518-21.

引用本文的文献

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series.全外显子组测序有助于莱施-奈恩综合征的早期诊断：病例系列报道

Diagnostics (Basel). 2024 Dec 13;14(24):2809. doi: 10.3390/diagnostics14242809.

The Effects of Diet, Dietary Supplements, Drugs and Exercise on Physical, Diagnostic Values of Urine Characteristics.饮食、膳食补充剂、药物和运动对尿液特征的物理、诊断值的影响。

Nutrients. 2024 Sep 17;16(18):3141. doi: 10.3390/nu16183141.

Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report.先天性异常相关 Riga-Fede 病作为 Lesch-Nyhan 综合征的早期表现：同一儿科患者中的罕见实体——病例报告。

BMC Oral Health. 2022 Feb 2;22(1):26. doi: 10.1186/s12903-022-02060-1.

Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report.迟发性莱施-尼汉病合并终末期肾病和痛风石破裂：病例报告。

Ren Fail. 2020 Nov;42(1):113-121. doi: 10.1080/0886022X.2020.1713805.

An unusual case of renal failure: Answers.一例罕见的肾衰竭病例：答案

Pediatr Nephrol. 2017 Jan;32(1):79-80. doi: 10.1007/s00467-015-3300-6. Epub 2016 Jan 11.

Urine bag as a modern day matula.尿袋作为现代的马图拉（一种传统印度容器）。

ISRN Nephrol. 2013 May 23;2013:215690. doi: 10.5402/2013/215690. eCollection 2013.

Orange-colored diapers in infants from families with gout.

Pediatr Nephrol. 2011 Jun;26(6):997. doi: 10.1007/s00467-011-1774-4. Epub 2011 Jan 30.

本文引用的文献

An infant with orange-colored urine.

Pediatr Nephrol. 2010 Feb;25(2):381. doi: 10.1007/s00467-009-1333-4. Epub 2009 Oct 21.

Lesch-Nyhan disease: from mechanism to model and back again.莱施-奈恩病：从机制到模型再回归

Dis Model Mech. 2009 Mar-Apr;2(3-4):116-21. doi: 10.1242/dmm.002543.

Normal HPRT coding region in complete and partial HPRT deficiency.完全性和部分性次黄嘌呤磷酸核糖基转移酶（HPRT）缺乏症中的正常HPRT编码区

Mol Genet Metab. 2008 Jun;94(2):167-72. doi: 10.1016/j.ymgme.2008.01.006. Epub 2008 Mar 7.

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症：莱施-奈恩综合征。

Orphanet J Rare Dis. 2007 Dec 8;2:48. doi: 10.1186/1750-1172-2-48.

Delineation of the motor disorder of Lesch-Nyhan disease.莱施-奈恩病运动障碍的描述。

Brain. 2006 May;129(Pt 5):1201-17. doi: 10.1093/brain/awl056. Epub 2006 Mar 20.

Urinary uric acid levels and discoloration of diapers in healthy neonates.健康新生儿的尿酸水平及尿布变色情况

Pediatr Nephrol. 2005 Sep;20(9):1361-2. doi: 10.1007/s00467-005-1934-5. Epub 2005 Jun 8.

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.导致次黄嘌呤磷酸核糖基转移酶缺乏的遗传性突变谱：75例新病例及对196例既往报道病例的综述。

Mutat Res. 2000 Oct;463(3):309-26. doi: 10.1016/s1383-5742(00)00052-1.

Lesch-Nyhan Syndrome: report on two brothers.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1994 Nov-Dec;35(6):552-8.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验