一名青春期女孩的低尿酸血症和高尿酸尿症：答案 - Suppr

Hypouricemia and hyperuricosuria in a pubescent girl: Answers.

作者信息

Stiburkova Blanka, Sebesta Ivan

机构信息

Institute of Rheumatology, Na Slupi 4, 128 50, Prague 2, Czech Republic.

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

出版信息

Pediatr Nephrol. 2018 Dec;33(12):2277-2279. doi: 10.1007/s00467-018-3934-2. Epub 2018 Mar 12.

DOI:10.1007/s00467-018-3934-2

PMID:29532232

Abstract

摘要

相似文献

Hypouricemia and hyperuricosuria in a pubescent girl: Answers.

Pediatr Nephrol. 2018 Dec;33(12):2277-2279. doi: 10.1007/s00467-018-3934-2. Epub 2018 Mar 12.

URAT1 mutations cause renal hypouricaemia combined with Fanconi syndrome in a Chinese patient.

Nephrology (Carlton). 2018 Aug;23(8):797-798. doi: 10.1111/nep.13190.

Hypouricemia and tubular transport of uric acid.

Nefrologia. 2011;31(1):44-50. doi: 10.3265/Nefrologia.pre2010.Oct.10588.

Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report.

BMC Nephrol. 2019 Nov 26;20(1):433. doi: 10.1186/s12882-019-1618-1.

Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.

Clin Exp Nephrol. 2016 Aug;20(4):578-584. doi: 10.1007/s10157-015-1186-z. Epub 2015 Oct 24.

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

BMC Med Genet. 2014 Jan 7;15:3. doi: 10.1186/1471-2350-15-3.

Molecular background of urate transporter genes in patients with exercise-induced acute kidney injury.

Am J Nephrol. 2013;38(4):316-20. doi: 10.1159/000355430. Epub 2013 Oct 4.

[Hereditary hypouricemia].

Nihon Jinzo Gakkai Shi. 2011;53(2):142-5.

Diagnostic tests for primary renal hypouricemia.

Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1112-6. doi: 10.1080/15257770.2011.611483.

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.

Eur J Hum Genet. 2013 Oct;21(10):1067-73. doi: 10.1038/ejhg.2013.3. Epub 2013 Feb 6.

引用本文的文献

Renal Hypouricemia 1: Rare Disorder as Common Disease in Eastern Slovakia Roma Population.

Biomedicines. 2021 Nov 3;9(11):1607. doi: 10.3390/biomedicines9111607.

本文引用的文献

Functional non-synonymous variants of ABCG2 and gout risk.

Rheumatology (Oxford). 2017 Nov 1;56(11):1982-1992. doi: 10.1093/rheumatology/kex295.

Prevalence of URAT1 allelic variants in the Roma population.

Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):529-535. doi: 10.1080/15257770.2016.1168839.

Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2.

Clin Exp Nephrol. 2016 Aug;20(4):578-584. doi: 10.1007/s10157-015-1186-z. Epub 2015 Oct 24.

High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.

Urolithiasis. 2015 Oct;43(5):441-5. doi: 10.1007/s00240-015-0790-4. Epub 2015 Jun 2.

Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia.

Circ J. 2015;79(5):1125-32. doi: 10.1253/circj.CJ-14-1267. Epub 2015 Feb 23.

Hereditary renal hypouricemia: a new role for allopurinol?

Am J Med. 2014 Jan;127(1):e3-4. doi: 10.1016/j.amjmed.2013.08.025. Epub 2013 Nov 19.

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.

Eur J Hum Genet. 2013 Oct;21(10):1067-73. doi: 10.1038/ejhg.2013.3. Epub 2013 Feb 6.

Diagnostic tests for primary renal hypouricemia.

Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1112-6. doi: 10.1080/15257770.2011.611483.

Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.

Am J Hum Genet. 2008 Dec;83(6):744-51. doi: 10.1016/j.ajhg.2008.11.001. Epub 2008 Nov 20.

Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects.

Nephrology (Carlton). 2008 Dec;13(8):661-6. doi: 10.1111/j.1440-1797.2008.01029.x. Epub 2008 Nov 17.

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

Hypouricemia and hyperuricosuria in a pubescent girl: Answers.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献

本文引用的文献