Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson’s disease-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson’s disease

Published:2014-02 Issue:2 Volume:21 Page:335-336
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

Arruda Walter O.,Munhoz Renato P.,de Bem Ricardo S.,Deguti Marta M.,Barbosa Egberto Reis,Zavala Jorge A.,Teive Hélio A.G.

Publisher

Elsevier BV

Subject

Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery

Reference18 articles.

1. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene;Bull;Nat Genet,1993

2. Neurologic Wilson’s disease;Lorincz;Ann N Y Acad Sci,2010

3. Neurological manifestations in Wilson’s disease: report of 119 cases;Machado;Mov Disord,2006

4. Neurologically presenting Wilson’s disease: epidemiology, pathophysiology and treatment;Brewer;CNS Drugs,2005

5. Sequence variation database for the Wilson disease copper transporter, ATP7B;Kenney;Hum Mutat,2007

Cited by 11 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. Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases;Arquivos de Neuro-Psiquiatria;2024-05

2. The mutation spectrum and ethnic distribution of Wilson disease, a review;Molecular Genetics and Metabolism Reports;2024-03

3. Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients;Molecular Genetics and Metabolism Reports;2023-09

4. Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency;Journal of Pediatric Gastroenterology & Nutrition;2021-10-05

5. The spectrum of involuntary vocalizations in humans: A video atlas;Movement Disorders;2019-10-25

同舟云学术

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