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一例13岁因冠状动及主脉粥样变猝死,并发现左髁黄瘤男孩,促使对该Amish家族(A)及74年已描述黄瘤并高谷固醇家族(H)作系统研究。发现A家族12名亲属5名肌腱和关节黄瘤伴有特殊的血浆植物固醇—β谷固醇增多、合并低密度脂蛋白(LDL)的脱辅基蛋白—B蛋白显著升高(平均173mg/dL)总
A 13-year-old man died of coronary artery and main atherosclerosis and found that the boy of the left condyloma caused a systematic study of the Amish family (A) and the 74-year-old described xanthoma and high sitosterol family (H). Five tendons and articular xanthomas were found in the A family and five relatives with increased plasma phytosterols-β sitosterol, with a significant increase in apoprotein-B protein with LDL (mean, 173 mg / dL) total