hypobetalipoproteinemia


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Related to hypobetalipoproteinemia: abetalipoproteinemia, Tangier disease
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Noun1.hypobetalipoproteinemia - a hereditary disorder characterized by low levels of beta-lipoproteins and lipids and cholesterol
abetalipoproteinemia - a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
hypolipoproteinemia - any of various disorders of lipoprotein and cholesterol metabolism that result in low levels of lipoprotein and cholesterol in the circulating blood
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References in periodicals archive ?
Individuals with hypobetalipoproteinemia and PCSK9 mutation have inherited natural protection from CAD.
(6,7) Hypobetalipoproteinemia is a specific familial condition defined by LDL-C cholesterol equal to or less than the fifth percentile.
Schonfeld, "ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies," Journal of Lipid Research, vol.
Mutations of the APOB gene and its regulatory region cause dyslipidemias (eg hypobetalipoproteinemia and hypercholesterolemia), and genetic variants of APOBEC1 and APOBEC2 are associated with high levels of serum low-density lipoproteins and increased atherosclerosis [68].
Hepatitis C virus-associated hypobetalipoproteinemia is correlated with plasma viral load, steatosis, and liver fibrosis.
Familial hypobetalipoproteinemia is a co-dominant disorder characterized by reduced plasma levels of LDL-C.
Similarly, in The Merck Manual, when the user finds abetalipoproteinemia in the index, and presses Enter, that user is actually given the second line of the hypobetalipoproteinemia section--one line below the nonvisible title for the section.
Hypobetalipoproteinemia (HBL) is defined by plasma concentrations of TC, LDL-C, or apo B that are lower than the fifth percentile (1).
The third variant, a compound mutation (R104C/V114A) found in a French family and associated with familial hypobetalipoproteinemia, exhibits a dominant negative effect on PCSK9 secretion (29).
Familial hypobetalipoproteinemia (FHBL) is commonly caused by mutations in the apolipoprotein B gene (APOB).
Familial hypobetalipoproteinemia (FHBL, [4] OMIM 107730) is a rare autosomal codominant disorder of lipoprotein metabolism in which sequence variations in the apolipoprotein B (APOB) [5] gene lead to decreased plasma concentrations of total cholesterol, LDL-cholesterol, and apolipoprotein (apo) B (below the 5th percentile for age and sex) (1-3).
Familial hypobetalipoproteinemia (FHBL) is a rare codominant disorder characterized by low plasma concentrations of LDL-cholesterol and apolipoprotein (apo) B.