Non-neuronopathic Gaucher disease due to saposin C deficiency
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00899.x/fullpdf
Reference22 articles.
1. Molecular and cell biology of acid beta-glucosidase and prosaposins;Qi;Prog Nucleic Acid Res Mol Biol,2001
2. Immunochemical characterization of two activator proteins stimulating enzymatic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant;Christomanou;Biol Chem Hoppe Seyler,1986
3. Activator protein deficient Gaucher’s disease. A second patient with the newly identified lipid storage disorder;Christomanou;Klin Wochenschr,1989
4. Third case of Gaucher disease with sap-C deficiency and evaluation of twelve months’ therapy by miglustat;Amsallem;J Inherit Metab Dis,2005
5. Synthetic substrate beta-glucosidase activity in leukocytes: a reproducible method for the identification of patients and carriers of Gaucher disease;Wenger;Clin Genet,1978
Cited by 83 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. Meta-analysis of the association of prosaposin polymorphisms rs4747203 and rs885828 with risk of Parkinson’s disease;Acta Neurologica Belgica;2024-01-11
2. Animal Models for the Study of Gaucher Disease;International Journal of Molecular Sciences;2023-11-07
3. The Endo-lysosomal System in Parkinson’s Disease: Expanding the Horizon;Journal of Molecular Biology;2023-06
4. The Biology of Lysosomes: From Order to Disorder;Biomedicines;2023-01-14
5. Gaucher Disease;Genetic Syndromes;2023
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