Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study

Published:2019-09-30 Issue:11 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Cerón‐Rodríguez Magdalena¹^ORCID,Ramón‐García Guillermo²,Barajas‐Colón Edgar³,Franco‐Álvarez Isidro³,Salgado‐Loza Juan L.⁴^ORCID

Affiliation:

1. Department of Lysosomal Diseases Hospital Infantil de México Federico Gómez Mexico City México

2. Department of Pathology Hospital Infantil de México Federico Gómez Mexico City México

3. Department of Nephrology Hospital Infantil de México Federico Gómez Mexico City México

4. SICODIC Ciudad de México México

Funder

Sanofi - Genzyme

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.981

Reference21 articles.

1. Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study

2. Mutations of the GLA Gene in Young Patients With Stroke

3. The p.Arg118Cys variant in the GLA gene does not cause fabry disease. More evidence;Barbeito‐Caamaño C.;Revista Española De Cardiología (English Edition),2018

Cited by 4 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. Fabry nephropathy: a treatable cause of chronic kidney disease;Rare Disease and Orphan Drugs Journal;2024-07-11

2. No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variant;Molecular Genetics & Genomic Medicine;2024-06

3. A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females;Molecular Genetics and Metabolism;2020-07

4. Stratification of Fabry mutations in clinical practice: a closer look at α‐galactosidase A‐3D structure;Journal of Internal Medicine;2020-06-24

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