Familial type I hyperlipoproteinemia caused by apolipoprotein C-II deficiency
نویسندگان
چکیده
منابع مشابه
Familial apolipoprotein A-I and C-III deficiency, variant II.
The biochemical, clinical, and genetic features were examined in the proband (homozygote) and heterozygotes (n = 17) affected with familial apolipoprotein A-I and C-III deficiency, variant II (previously described as apolipoprotein A-I absence). The proband was a 45-year-old white female with mild corneal opacification and significant three-vessel coronary artery disease (CAD), who died shortly...
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A kindred with apolipoprotein E deficiency and a truncated lower molecular weight apoE mutant, designated a p 0 E 3 ~ ~ ~ ~ ~ ~ ~ ~ ~ ~ , has been identified. Gel electrophoresis demonstrated complete absence of the normal apoE isoproteins and the presence of a small quantity of a lower molecular weight apoE. Plasma apoE levels in the proband were approximately 4% of normal. This marked deficie...
متن کاملFamilial apolipoprotein E deficiency and type III hyperlipoproteinemia due to a premature stop codon in the apolipoprotein E gene.
A kindred with apolipoprotein E deficiency and a truncated lower molecular weight apoE mutant, designated apoE-3Washington, has been identified. Gel electrophoresis demonstrated complete absence of the normal apoE isoproteins and the presence of a small quantity of a lower molecular weight apoE. Plasma apoE levels in the proband were approximately 4% of normal. This marked deficiency of apoE re...
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To the Editor: Gestational hyperlipidemic pancreatitis is an uncommon but serious disorder. In women having type I, IV, or V hyperlipoproteinemia (HLP), the superimposition of the physiologic hyperlipidemia of pregnancy may lead to acute pancreatitis. Here, we present a case of gestational hyperlipidemic pancreatitis associated with apo E2/E2 homozygous type III HLP. A 39-year-old gravida 3, pa...
متن کاملApolipoprotein B as a marker of familial hyperlipoproteinemia.
AIMS Families with 10-12-year-old schoolchildren were informed about and asked to participate in a study to identify children with hyperlipoproteinemia. We hypothesised that children and families with familial blood lipid abnormalities, specifically those with familial hypercholesterolemia (FH) and familial combined hyperlipidemia (FCHL), could be identified by the child's apolipoprotein B leve...
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ژورنال
عنوان ژورنال: Atherosclerosis
سال: 1979
ISSN: 0021-9150
DOI: 10.1016/0021-9150(79)90106-0