Glueck C J, Tsang R C, Mellies M J, Fallat R W
Metabolism. 1976 Jun;25(6):611-4. doi: 10.1016/0026-0495(76)90057-3.
A kindred with four generation vertical transmission of familial hypobeta-lipoproteinemia was ascertained by measurement of low levels of cord blood low density lipoprotein cholesterol (C-LDL) in a propositus neonate. Measurement of cord blood C-LDL in conjunction with family studies allows the neonatal diagnosis of familial hypobetalipoproteinemia.
通过对一名先证者新生儿的脐血低密度脂蛋白胆固醇（C-LDL）水平进行检测，确定了一个具有家族性低β脂蛋白血症四代垂直遗传的家族。脐血C-LDL检测结合家族研究可实现家族性低β脂蛋白血症的新生儿诊断。
