• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism.

作者信息

Gromadzka G, Chabik G, Mendel T, Wierzchowska A, Rudnicka M, Czlonkowska A

机构信息

Institute of Psychiatry and Neurology, Second Department of Neurology, 02-957 Warsaw, Poland.

出版信息

J Genet. 2010 Dec;89(4):463-7. doi: 10.1007/s12041-010-0065-3.

DOI:10.1007/s12041-010-0065-3
PMID:21273697
Abstract
摘要

相似文献

1
Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism.中年威尔逊病杂合子携带者未出现与铜代谢相关的明显表型偏差。
J Genet. 2010 Dec;89(4):463-7. doi: 10.1007/s12041-010-0065-3.
2
Heterozygous tx mice have an increased sensitivity to copper loading: implications for Wilson's disease carriers.杂合子tx小鼠对铜负荷的敏感性增加：对威尔逊病携带者的影响。
Biometals. 2007 Oct;20(5):751-7. doi: 10.1007/s10534-006-9038-7. Epub 2006 Nov 29.
3
The Jackson toxic milk mouse as a model for copper loading.
Mamm Genome. 2001 Oct;12(10):793-5. doi: 10.1007/s00335-001-3021-y.
4
Modifying factors and phenotypic diversity in Wilson's disease.Wilson 病的修饰因子和表型多样性。
Ann N Y Acad Sci. 2014 May;1315:56-63. doi: 10.1111/nyas.12420. Epub 2014 Apr 4.
5
Phenotype-genotype correlations in patients with Wilson's disease.Wilson 病患者的表型-基因型相关性。
Ann N Y Acad Sci. 2014 May;1315:1-5. doi: 10.1111/nyas.12340. Epub 2014 Feb 12.
6
Neurologic Wilson's disease.神经型威尔逊病。
Ann N Y Acad Sci. 2010 Jan;1184:173-87. doi: 10.1111/j.1749-6632.2009.05109.x.
7
p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.ATP7B基因的p.H1069Q突变与威尔逊病的铜代谢生化参数及临床表现
Mov Disord. 2006 Feb;21(2):245-8. doi: 10.1002/mds.20671.
8
[The Euro-Wilson project: a European project for the study of Wilson's disease].
Gastroenterol Hepatol. 2008 Mar;31(3):117-9. doi: 10.1157/13116498.
9
Genetics of Wilsons disease.威尔逊病的遗传学。
Parkinsonism Relat Disord. 2010 Dec;16(10):639-44. doi: 10.1016/j.parkreldis.2010.07.007. Epub 2010 Aug 14.
10
"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.一名ATP7B基因新型突变杂合子携带者患者的“获得性”肝脑变性
Mov Disord. 2009 Aug 15;24(11):1706-8. doi: 10.1002/mds.22659.

引用本文的文献

1
Challenges and Recent Advances in Diagnosing Wilson Disease.威尔逊病诊断中的挑战与最新进展
J Clin Exp Hepatol. 2025 Jul-Aug;15(4):102531. doi: 10.1016/j.jceh.2025.102531. Epub 2025 Feb 22.
2
Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review.威尔逊病患者伴白细胞包涵体的巨血小板减少症：病例报告及文献复习。
BMC Med Genomics. 2024 Jul 17;17(1):188. doi: 10.1186/s12920-024-01960-1.
3
Monitoring of Copper in Wilson Disease.威尔逊病中铜的监测

本文引用的文献

1
Heterozygous carriers for Wilson's disease--magnetic spectroscopy changes in the brain.威尔逊病杂合子携带者——大脑的磁共振波谱变化
Metab Brain Dis. 2009 Sep;24(3):463-8. doi: 10.1007/s11011-009-9145-6. Epub 2009 Aug 26.
2
Wilson's disease: a case report and a historical review.威尔逊氏病：一例病例报告及历史回顾
Arq Neuropsiquiatr. 2009 Jun;67(2B):539-43. doi: 10.1590/s0004-282x2009000300036.
3
Ceruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study.血清铜蓝蛋白和超氧化物歧化酶 1（SOD1）在威尔逊病杂合子中的研究：一项病例对照研究。
Diagnostics (Basel). 2023 May 23;13(11):1830. doi: 10.3390/diagnostics13111830.
4
Wilson's Disease-Genetic Puzzles with Diagnostic Implications.威尔逊氏病——具有诊断意义的遗传谜题
Diagnostics (Basel). 2023 Mar 29;13(7):1287. doi: 10.3390/diagnostics13071287.
5
Re-evaluation of the existing health-based guidance values for copper and exposure assessment from all sources.重新评估现有的基于健康的铜指导值以及来自所有来源的暴露评估。
EFSA J. 2023 Jan 17;21(1):e07728. doi: 10.2903/j.efsa.2023.7728. eCollection 2023 Jan.
6
Antioxidant Capacity Is Decreased in Wilson's Disease and Correlates to Liver Function.抗氧化能力在威尔逊病中降低，并与肝功能相关。
Biol Trace Elem Res. 2023 Apr;201(4):1582-1587. doi: 10.1007/s12011-022-03277-5. Epub 2022 May 7.
7
Diagnosis of Wilson Disease and Its Phenotypes by Using Artificial Intelligence.基于人工智能的肝豆状核变性及其表型的诊断。
Biomolecules. 2021 Aug 20;11(8):1243. doi: 10.3390/biom11081243.
8
CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B.CRISPR/Cas9 介导的突变铜转运体 ATP7B 的校正。
PLoS One. 2020 Sep 30;15(9):e0239411. doi: 10.1371/journal.pone.0239411. eCollection 2020.
9
Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.威尔逊病的管理视角：早期诊断和个体化治疗。
Curr Neuropharmacol. 2021;19(4):465-485. doi: 10.2174/1570159X18666200429233517.
10
Transcranial sonography changes in heterozygotic carriers of the ATP7B gene.脑超声检查在 ATP7B 基因突变杂合子携带者中的变化。
Neurol Sci. 2020 Sep;41(9):2605-2612. doi: 10.1007/s10072-020-04378-6. Epub 2020 Apr 9.
Neuropsychiatr Dis Treat. 2009;5:55-9. doi: 10.2147/ndt.s4360. Epub 2009 Apr 8.
4
How common is essential tremor?特发性震颤有多常见？
Neuroepidemiology. 2009;32(3):215-6. doi: 10.1159/000195692. Epub 2009 Jan 24.
5
Determination of liver enzymes, serum ceruloplasmin and urine copper in parents of children with Wilson's disease.肝豆状核变性患儿父母的肝酶、血清铜蓝蛋白及尿铜测定
Saudi Med J. 2008 Jul;29(7):1056-7.
6
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.威尔逊病和门克斯病的分子发病机制：突变与分子缺陷及疾病表型的相关性
J Med Genet. 2007 Nov;44(11):673-88. doi: 10.1136/jmg.2007.052746. Epub 2007 Aug 23.
7
Wilson's disease.威尔逊氏病
Lancet. 2007 Feb 3;369(9559):397-408. doi: 10.1016/S0140-6736(07)60196-2.
8
Copper binding to the N-terminal metal-binding sites or the CPC motif is not essential for copper-induced trafficking of the human Wilson protein (ATP7B).铜与N端金属结合位点或CPC基序的结合对于铜诱导的人类威尔逊蛋白（ATP7B）的转运并非必不可少。
Biochem J. 2007 Jan 1;401(1):143-53. doi: 10.1042/BJ20061055.
9
Wilson's disease: an update.威尔逊氏病：最新进展。
Nat Clin Pract Neurol. 2006 Sep;2(9):482-93. doi: 10.1038/ncpneuro0291.
10
DETECTION OF THE HETEROZYGOUS CARRIER OF THE WILSON'S DISEASE GENE.威尔逊病基因杂合携带者的检测
J Clin Invest. 1961 Apr;40(4):707-15. doi: 10.1172/JCI104304.