Patients with symptoms of haemolytic anaemia and thrombocytopenia revealed by genetic testing as sitosterolemia

Abstract Background Sitosterolemia is a rare, inherited, autosomal recessive disorder of lipid metabolism. Patients with sitosterolemia may exhibit diverse, distinct clinical characteristics. Methods and results We report cases of sitosterolemia with haematological abnormalities as primary initial s...

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Bibliographic Details
Main Authors: Mengjia Qian, Pu Chen, Yanxia Zhan, Bijun Zhu, Lingyan Wang, Miaomiao Zhang, Yujie Zhou, Hao Chen, Lili Ji, Yunfeng Cheng
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Clinical and Translational Discovery
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Online Access:https://doi.org/10.1002/ctd2.70071
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