Sitosterolemia—10 years observation in two sisters-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Sitosterolemia—10 years observation in two sisters

Published:2019-05-28 Issue:1 Volume:48 Page:4-10
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Veit Lara¹,Allegri Machado Gabriella¹,Bürer Céline¹,Speer Oliver²³,Häberle Johannes¹^ORCID

Affiliation:

1. Division of Metabolism and Children's Research CenterUniversity Children's Hospital Zurich Zurich Switzerland

2. Division of Haematology and Children's Research CenterUniversity Children's Hospital Zurich Zurich Switzerland

3. Institut für LabormedizinSpital Thurgau AG Frauenfeld Switzerland

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12038

Reference38 articles.

1. β-Sitosterolemia and Xanthomatosis

2. Sitosterolaemia: pathophysiology, clinical presentation and laboratory diagnosis

3. Sitosterolemia Presenting With Severe Hypercholesterolemia and Intertriginous Xanthomas in a Breastfed Infant: Case Report and Brief Review

4. Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management

Cited by 10 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. Sitosterolemia With Two Heterozygous Variants Including a Novel Mutation c.1800T>A in the ABCG5 Gene: A Case Report of a Rare Condition in a Young Saudi Girl;Cureus;2024-06-25

2. Sitosterolemia caused by mutations in the ABCG8 gene. First case report in Colombia;Revista de la Facultad de Medicina;2023-12-31

3. Sitosterolaemia identified due to peri-pregnancy rebound hypercholesterolaemia;Pathology;2022-12

4. Foamy Cell Histiocytosis Is a Diagnostic Pitfall: A Case Report of Xanthomatosis Secondary to Sitosterolemia Mimicking Progressive Nodular Histiocytosis;The American Journal of Dermatopathology;2022-07-06

5. Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia;Journal of Clinical Lipidology;2022-01

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