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A Case of Familial Hypercholesterolemia.

Journal of the Korean Pediatric Society 1989;32(9):1288-1294.
Published online September 30, 1989.
A Case of Familial Hypercholesterolemia.
J H You, H R Kil, J J Seo, Y H Chung
Department of Pediatrics, College of Medicine, Chungnam National University, Daejeon, Korea
가족성 과콜레스테롤혈증 1례
유재홍, 길홍량, 서종진, 정용헌
충남대학교 의과대학 소아과학교실
Received: 8 March 1989   • Accepted: 29 May 1989
Abstract
We experienced a case of familial hypercholesterolemia in 9 year-old boy with hypercholester- olemia, tendon xanthoma, foamy histicoytes in skin biopsy and biochemical abnormalities in family members, but without abnoramlity of cardiovascular system. Diagnosis was established by clinical characteristics, serum chemistry and lipoprotein- electrophotesis. A brief review of related literatures was done.
Key Words: Familial hypercholesterolemia, Tendon xanthoma


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