家族性高胆固醇血症——病例报告
Familial hypercholesterolaemia--a case report.
作者信息
Basu Mullick C, Basu Das Bandita, Chatterjee Sourangsu, Bhattacharya Gorachand, Biswas Shyamali
机构信息
Department of Biochemistry, Medical College, Kolkata 700073.
出版信息
J Indian Med Assoc. 2002 Nov;100(11):667-8.
PMID:12797640
Abstract
A case report of a 9-year-old female presenting with cutaneous xanthoma and other findings suggestive of homozygous familial hypercholesterolaemia along with abnormalities in serum lipid profile in other siblings is presented in view of its rarity.
摘要
鉴于其罕见性，本文报告了一例9岁女性病例，该患者出现皮肤黄色瘤及其他提示纯合子家族性高胆固醇血症的表现，其其他兄弟姐妹的血脂谱也存在异常。
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