Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review-Reference-Cited by-同舟云学术

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Clinical features, molecular characteristics, and treatments of a Chinese girl with sitosterolemia: A case report and literature review

Published:2019-03 Issue:2 Volume:13 Page:246-250
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

Su Xueying,Shao Yongxian,Lin Yunting,Zhao Xiaoyuan,Zhang Wen,Jiang Minyan,Huang Yonglan,Zeng Chunhua,Liu Li,Li Xiuzhen

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine,Nutrition and Dietetics,Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference25 articles.

1. Mapping a gene involved in regulating dietary cholesterol absorption. The sitosterolemia locus is found at chromosome 2p21;Patel;J Clin Invest,1998

2. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters;Berge;Science,2000

3. Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia;Rees;Br J Haematol,2005

4. Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia;Wang;Am J Hematol,2014

5. Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children;Niu;J Inherit Metab Dis,2010

Cited by 9 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. Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation;Lipids in Health and Disease;2022-10-13

2. Pediatric patients with familially inherited sitosterolemia: Two case reports;Frontiers in Cardiovascular Medicine;2022-08-16

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

4. Misdiagnosis of sitosterolemia in a patient as Evans syndrome and familial hypercholesterolemia;Journal of Clinical Lipidology;2022-01

5. Acute Coronary Syndrome Developed in a 17-year-old boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature;Internal Medicine;2022

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