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...

وصف كامل

التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Clinical and Translational Discovery
المؤلفون الرئيسيون:	Mengjia Qian, Pu Chen, Yanxia Zhan, Bijun Zhu, Lingyan Wang, Miaomiao Zhang, Yujie Zhou, Hao Chen, Lili Ji, Yunfeng Cheng
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Wiley 2025-08-01
الموضوعات:	ABCG5 haematological abnormalities ITGB3 sitosterolemia
الوصول للمادة أونلاين:	https://doi.org/10.1002/ctd2.70071

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