Four novel GALC gene mutations in two Chinese patients with Krabbe disease
Author:
Funder
PLA
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference16 articles.
1. Studies in globoid (Krabbe) leukodystrophy (GLD). V. Controlled enzymic studies in ten human cases;Austin;Arch. Neurol.,1970
2. Galactocerebrosidase from human urine: purification and partial characterization;Chen;Biochim. Biophys. Acta,1993
3. Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy;Chen;Hum. Mol. Genet.,1993
4. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion;Den Dunnen;Hum. Mutat.,2000
5. Standardizing mutation nomenclature: why bother?;Den Dunnen;Hum. Mutat.,2003
Cited by 17 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. Neural (Sensory) Retina;Ocular Pathology;2025
2. Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature;Neurocase;2024-03-03
3. A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy;Frontiers in Neuroscience;2022-09-07
4. A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review;neurogenetics;2022-01-10
5. Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging;Neuropsychiatric Disease and Treatment;2021-05
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