Fabry disease in a Japanese population-molecular and biochemical characteristics-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Fabry disease in a Japanese population-molecular and biochemical characteristics

Published:2018-12 Issue: Volume:17 Page:73-79
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Sakuraba Hitoshi,Tsukimura Takahiro,Togawa Tadayasu,Tanaka Toshie,Ohtsuka Tomoko,Sato Atsuko,Shiga Tomoko,Saito Seiji,Ohno Kazuki

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference34 articles.

1. Fabry disease;Germain;Orphanet J. Rare Dis.,2010

2. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course;Branton;Medicine (Baltimore),2002

3. Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome;Nance;Arch. Neurol.,2006

4. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females;MacDermot;J. Med. Genet.,2001

5. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease;Germain;J. Med. Genet.,2015

Cited by 30 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. Long-term safety of enzyme replacement therapy with agalsidase alfa in patients with Fabry disease: post-marketing extension surveillance in Japan;Molecular Genetics and Metabolism Reports;2024-09

2. Late-onset renal variant Fabry disease with R112H mutation and mild increase in plasma globotriaosylsphingosine: a case report;Frontiers in Medicine;2024-06-06

3. Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease;Cureus;2024-05-30

4. Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson–Fabry Disease;International Journal of Molecular Sciences;2024-04-12

5. Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients;Internal Medicine;2024

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