在对10000名丹麦新生儿进行血脂蛋白过低症脐血筛查时，确诊了9名儿童患有家族性低β-脂蛋白血症。
Familial hypobetalipoproteinaemia in 9 children diagnosed as the result of cord blood screening for hypolipoproteinaemia in 10 000 Danish newborns.
作者信息
Andersen G E, Brokhattingen K, Lous P
出版信息
Arch Dis Child. 1979 Sep;54(9):691-4. doi: 10.1136/adc.54.9.691.
Abstract
Out of 10 440 children, 266 with low (less than 2.5 centile) values for very low-low density lipoproteins in cord serum were chosen to be followed up to find out how many came from families with familial hypobetalipoproteinaemia (FHBL). In 176 families (66% of 266 families), FHBL was diagnosed in 9 children and their families.
摘要
在10440名儿童中，选择了266名脐血血清极低密度脂蛋白值低（低于第2.5百分位数）的儿童进行随访，以查明有多少儿童来自家族性低β脂蛋白血症（FHBL）家庭。在176个家庭（266个家庭中的66%）中，有9名儿童及其家庭被诊断为FHBL。
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