Glueck C J, Gartside P M, Tsang R C, Mellies M J, Steiner P M
Metabolism. 1977 May;26(5):469-72. doi: 10.1016/0026-0495(77)90089-0.
A kindred with four-generation vertical transmission of familial hyperalphalipoproteinemia was ascertained by measurement of elevated levels of cord blood high-density lipoprotein cholesterol (C-HDL) in a neonatal propositus. Quantitation of cord blood C-HDL coupled with family studies and longitudinal follow-up allows the diagnosis of familial hyperalphalipoproteinemia in infancy.
通过对一名新生儿先证者的脐血高密度脂蛋白胆固醇(C-HDL)水平升高进行检测,确定了一个具有家族性高α脂蛋白血症四代垂直遗传的家系。脐血C-HDL定量分析结合家族研究和纵向随访,有助于在婴儿期诊断家族性高α脂蛋白血症。