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- W2028647293 abstract "Familial dysbetalipoproteinemia results in part from a genetic defect in apolipoprotein E (apoE) which prevents normal binding of chylomicron remnants to a specific hepatic apoE receptor. We have developed a technique for measuring the consequent abnormality in chylomicron remnant clearance in these patients. Oral administration of retinol and Lipomul permits the labelling of nascent chylomicrons with retinyl palmitate (RP). RP is measured by high pressure liquid chromatography in plasma and in isolated lipoprotein fractions from 10-12 hourly blood samples. Clearance of chylomicron remnants (T½) is calculated from the rate of disappearance of RP from chylomicrons and very low density lipoproteins. The method was found to be safe and without side effects in 45 adults. Chylomicron remnant T½ was 1.5±0.5 hours in 7 people with normal fasting lipids. There was no change in low density lipoprotein RP; no RP was found in high density lipoprotein; no exchange of RP between lipoproteins was found. Five patients with familial dysbetalipoproteinemia were studied, including a teenage boy homozygous for the apoE 2 genetic variant (apoE 2/2) with severe type III hyperlipoproteinemia, generalized pruritic tuberoeruptive xanthoma and xanthoma striata palmaris. All patients failed to clear RP during the test, consistent with the failure of hepatic upake of chylomicron remnants carrying this apoE variant." @default.
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- W2028647293 date "1984-04-01" @default.
- W2028647293 modified "2023-10-16" @default.
- W2028647293 title "DEFECTIVE CHYLOMICRON REMNANT CLEARANCE IN PATIENTS WITH FAMILIAL DYSBETAL IPOPROTEINEMIA" @default.
- W2028647293 doi "https://doi.org/10.1203/00006450-198404001-00765" @default.
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