期刊名称：Journal of Clinical Biochemistry and Nutrition
印刷版ISSN：0912-0009
电子版ISSN：1880-5086
出版年度：1989
卷号：7
期号：2
页码：161-167
DOI：10.3164/jcbn.7.161
出版社：The Society for Free Radical Research Japan
摘要：We report a 50-year-old male with homozygous familial hypercholesterolemia. His plasma cholesterol level was over 600mg/dl. He had suffered from ischemic heart disease since age 20. Receptor assay utilizing skin fibroblasts revealed that he was a homozygote for receptornegative familial hypercholesterolemia. In addition, his fibroblasts synthesized no immunoprecipitable low-density lipoprotein receptor. Considering his disease, his life is extraordinarily long; this is, in part, attributable to his dietary habits.
