异合家族高胆固醇血症与异合家族高胆固醇蛋白-E3缺乏症的关联:对脂质蛋白生理学的影响
Lancet (London, England)
|February 7, 1981
概括
一名患有联合apo-E3缺乏症和家族性高胆固醇血症的儿童的严重高胆固醇血症对克洛菲布拉特反应良好. 这表明,在这种罕见的遗传条件下,纤维酸有助于清除脂蛋白残留物.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 家族性高胆固醇血症 (FH) 是一种遗传性疾病,导致高的LDL胆固醇.
- 脂蛋白E3 (apo-E3) 缺乏症是一种罕见的遗传缺陷,与III型高脂蛋白血症有关.
- 综合遗传缺陷可能导致复杂的脂质样本和临床表现.
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