Genetic screening of Fabry patients with EcoTILLING and HRM technology-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genetic screening of Fabry patients with EcoTILLING and HRM technology

Published:2011-09-06 Issue:1 Volume:4 Page:
ISSN:1756-0500
Container-title:BMC Research Notes
language:en
Short-container-title:BMC Res Notes

Author:

Bono Caterina,Nuzzo Domenico,Albeggiani Giuseppe,Zizzo Carmela,Francofonte Daniele,Iemolo Francesco,Sanzaro Enzo,Duro Giovanni

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/1756-0500-4-323.pdf

Reference39 articles.

1. Hoffman Bjorn: Fabry disease: recent avances in pathology, diagnosis, treatment and monitoring. Orphanet J Rare Dis. 2009, 4: 21-10.1186/1750-1172-4-21.

2. Aerts Johannes: Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA. 2008, 105 (8): 2812-2817. 10.1073/pnas.0712309105.

3. Shen Jin-Song: Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab. 2008, 95 (3): 163-168. 10.1016/j.ymgme.2008.06.016.

4. Linhart Aleš, Elliott Perry: The heart in AndersonıFabry disease and other lysosomal storage disorders. Heart. 2007, 93 (4): 528-535. 10.1136/hrt.2005.063818.

5. Schiffmann Raphael: Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009, 24 (7): 2102-2111. 10.1093/ndt/gfp031.

Cited by 22 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. High-resolution melt curve analysis: An approach for variant detection in the TPO gene of congenital hypothyroid patients in Bangladesh;PLOS ONE;2024-04-10

2. High-Resolution Melt Curve Analysis: An Approach for Mutation Detection in the TPO Gene of Congenital Hypothyroid Patients in Bangladesh;2023-10-18

3. Population Frequency of Undiagnosed Fabry Disease in the General Population;Kidney International Reports;2023-07

4. Maternal germline mosaicism in Fabry disease;Neurological Sciences;2019-02-14

5. SCREENING DIAGNOSTICS OF FABRIC DISEASE AMONG PATIENTS WITH CHRONIC KIDNEY DISEASE IN THE NORTH-WESTERN REGION OF RUSSIA;Nephrology (Saint-Petersburg);2019-02-06

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