Chitotriosidase deficiency in the Cypriot population: Identification of a novel deletion in the CHIT1 gene
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference28 articles.
1. Chitinase activity in human serum and leukocytes;Escott;Infect. Immun.,1995
2. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease;Hollak;J. Clin. Invest.,1994
3. Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity;van Eijk;Int. Immunol.,2005
4. Purification and characterization of human chitotriosidase, a novel member of the chitinase family of proteins;Renkema;J. Biol. Chem.,1995
5. Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages;Boot;J. Biol. Chem.,1995
Cited by 6 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. Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1;Orphanet Journal of Rare Diseases;2022-12-21
2. Chitotriosidase gene polymorphisms and mutations limit the determination of chitotriosidase expression in sarcoidosis;Clinica Chimica Acta;2021-02
3. A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease;Molecular Genetics & Genomic Medicine;2020-01-14
4. Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders;Clinical Biochemistry;2018-11
5. Evaluation of Chitotriosidase and CC-Chemokine Ligand 18 as Biomarkers of Microglia Activation in Amyotrophic Lateral Sclerosis;Neurodegenerative Diseases;2018
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