A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report

Published:2022-05-04 Issue:3 Volume:28 Page:314-319
ISSN:1355-4794
Container-title:Neurocase
language:en
Short-container-title:Neurocase

Author:

He Zhengqing¹²,Pang Xinyuan²³,Bai Jiongming²³,Wang Haoran²³,Feng Feng⁴,Du Rongrong²³,Huang Xusheng¹²³^ORCID

Affiliation:

1. Chinese PLA Medical School, Beijing, China

2. Department of Neurology, The First Medical Center, Chinese PLA General Hospital, Beijing, China

3. College of Medicine, Nankai University, Tianjin, China

4. Department of Neurology, PLA Rocket Force Characteristic Medical Center, Beijing, China

Funder

there is no funding associated with the work

Publisher

Informa UK Limited

Subject

Neurology (clinical),Arts and Humanities (miscellaneous)

Link

https://www.tandfonline.com/doi/pdf/10.1080/13554794.2022.2083518

Reference25 articles.

1. Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature

2. Cloning and expression cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy

3. Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease

4. Later Onset Phenotypes of Krabbe Disease: Results of the World-Wide Registry

5. Mechanisms of demyelination and neurodegeneration in globoid cell leukodystrophy

Cited by 3 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. Globoid Cell Leukodystrophy (Krabbe Disease): An Update;ImmunoTargets and Therapy;2023-10

2. Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report;Frontiers in Neurology;2022-10-21

3. Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review;Biology;2022-09-02

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