Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference18 articles.
1. Gaucher disease: perspectives on a prototype lysosomal disease;Zhao;Cell. Mol. Life Sci.,2002
2. Mutations causing Gaucher disease;Horowitz;Hum. Mutat.,1994
3. New directions in the treatment of Gaucher disease;Futerman;Trends Pharmacol. Sci.,2004
4. The human glucocerebrosidase gene and pseudogene: structure and evolution;Horowitz;Genomics,1989
5. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease;Winfield;Genome Res.,1997
Cited by 48 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. Neuronopathic Gaucher disease: Rare in the West, common in the East;Journal of Inherited Metabolic Disease;2024-05-20
2. A review of type 3 Gaucher disease: unique neurological manifestations and advances in treatment;Acta Neurologica Belgica;2024-02-28
3. Changing clinical manifestations of Gaucher disease in Taiwan;Orphanet Journal of Rare Diseases;2023-09-15
4. Use of Ambroxol as Therapy for Gaucher Disease;JAMA Network Open;2023-06-21
5. Classification of GBA1 Variants in Parkinson's Disease: The GBA1‐PD Browser;Movement Disorders;2023-01-04
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