Middle-aged heterozygous carriers of Wilson’s disease do not present with significant phenotypic deviations related to copper metabolism
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s12041-010-0065-3.pdf
Reference25 articles.
1. Ala A., Walker A. P., Ashkan K., Dooley J. S. and Schilsky M. L. 2007 Wilson’s disease. Lancet 69, 397–408.
2. Barbosa E. R., Machado A. A., Cancádo E. L., Deguti M. M. and Scaff M. 2009 Wilson’s disease: a case report and a historical review. Arq. Neuropsiquiatr 67, 539–543.
3. Benito-León J. 2009 How common is essential tremor? Neuroepidemiology 32, 215–216.
4. Cartwright G. E., Markowitz H., Shields G. S. and Wintrobe M. M. 1960 Studies on copper metabolism. XXIX. A. Critical analysis of serum copper and ceruloplasmin concentrations in normal subjects, patients with Wilson’s disease and relatives of patients with Wilson’s disease. Am. J. Med. 28, 555–563.
5. Cater M. A., La Fontaine S. and Mercer J. F. 2007 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). Biochem. J. 401, 143–153.
Cited by 36 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Macrothrombocytopenia with leukocyte inclusions in a patient with Wilson disease: a case report and literature review;BMC Medical Genomics;2024-07-17
2. Diagnóstico de la enfermedad de Wilson y sus fenotipos usando inteligencia artificial;Magna Scientia UCEVA;2023-08-23
3. Monitoring of Copper in Wilson Disease;Diagnostics;2023-05-23
4. Wilson’s Disease—Genetic Puzzles with Diagnostic Implications;Diagnostics;2023-03-29
5. Enfermedad de Wilson;Medicina Clínica;2023-03
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3