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。
相似文献
1
Familial hypobetalipoproteinaemia in 9 children diagnosed as the result of cord blood screening for hypolipoproteinaemia in 10 000 Danish newborns.
Arch Dis Child. 1979 Sep;54(9):691-4. doi: 10.1136/adc.54.9.691.
2
Familial hypo-beta-lipoproteinemia: a family detected by cord blood tests.
Am J Dis Child. 1977 Dec;131(12):1363-5. doi: 10.1001/archpedi.1977.02120250045007.
3
A clinical and neurophysiological investigation of a Danish kindred with heterozygous familial hypobetalipoproteinemia.
Acta Paediatr Scand. 1979 Mar;68(2):155-9. doi: 10.1111/j.1651-2227.1979.tb04981.x.
4
Familial hypobeta-lipoproteinemia: studies in 13 kindreds.
Trans Assoc Am Physicians. 1977;90:184-203.
5
Screening for hyperlipoproteinemia in 10,000 Danish newborns. Follow-up studies in 522 children with elevated cord serum VLDL-LDL-cholesterol.
Acta Paediatr Scand. 1979 Jul;68(4):541-5. doi: 10.1111/j.1651-2227.1979.tb05052.x.
6
Neonatal hypobetalipoproteinemia.
Pediatr Res. 1978 May;12(5):665-8. doi: 10.1203/00006450-197805000-00010.
7
Hyperlipoproteinemia in newborn infants. A study of 1025 families.
Acta Paediatr Scand. 1979 Sep;68(5):683-90. doi: 10.1111/j.1651-2227.1979.tb18438.x.
8
Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.
J Med Genet. 1990 Feb;27(2):133-4. doi: 10.1136/jmg.27.2.133.
9
Prevalence of familial hyper- and hypolipoproteinemias: the Princeton School District Family Study.
Metabolism. 1982 Jun;31(6):558-77. doi: 10.1016/0026-0495(82)90095-6.
10
High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent.
J Med Genet. 2005 Apr;42(4):e23. doi: 10.1136/jmg.2004.029454.
引用本文的文献
1
Apolipoprotein B detected in the plasma of a patient with homozygous hypobetalipoproteinaemia: implications for aetiology.
J Med Genet. 1983 Jun;20(3):189-95. doi: 10.1136/jmg.20.3.189.
2
Homozygous hypobetalipoproteinaemia and phenylketonuria.
Eur J Pediatr. 1985 Jul;144(2):174-6. doi: 10.1007/BF00451908.
3
Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.
J Clin Invest. 1990 Mar;85(3):933-42. doi: 10.1172/JCI114522.
本文引用的文献
1
On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea.
Lancet. 1960 Aug 13;2(7146):325-9. doi: 10.1016/s0140-6736(60)91478-1.
2
[New method of separation & determination of low-density lipoproteins].
Ann Biol Clin (Paris). 1959 Jan-Feb;17(1-2):23-34.
3
[A new determination of the neutral fats in blood serum and tissue. I. Principles, procedure, and discussion of the method].
Klin Wochenschr. 1966 Mar 1;44(5):262-7. doi: 10.1007/BF01747716.
4
Familial homozygous hypobetalipoproteinemia.
Metabolism. 1974 Aug;23(8):779-91. doi: 10.1016/0026-0495(74)90010-9.
5
[Enzymatic determination of total cholesterol with the Greiner Selective Analyzer (GSA-II) (author's transl)].
J Clin Chem Clin Biochem. 1977 Mar;15(3):121-30.
6
Long-term management of abetalipoproteinaemia. Possible role for vitamin E.
Arch Dis Child. 1977 Mar;52(3):209-14. doi: 10.1136/adc.52.3.209.
7
Dietary habits and serum lipids during first 4 years of life. A study of 95 Danish children.
Acta Paediatr Scand. 1979 Mar;68(2):165-70. doi: 10.1111/j.1651-2227.1979.tb04983.x.
8
Screening for hyperlipoproteinemia in 10,000 Danish newborns. Follow-up studies in 522 children with elevated cord serum VLDL-LDL-cholesterol.
Acta Paediatr Scand. 1979 Jul;68(4):541-5. doi: 10.1111/j.1651-2227.1979.tb05052.x.
9
Familial hypo-beta-lipoproteinemia: a family detected by cord blood tests.
Am J Dis Child. 1977 Dec;131(12):1363-5. doi: 10.1001/archpedi.1977.02120250045007.
10
Longevity syndromes: familial hypobeta and familial hyperalpha lipoproteinemia.
J Lab Clin Med. 1976 Dec;88(6):941-57.
Zotero 插件