Cholesterol turnover and metabolism in two patients with abetalipoproteinemia.
نویسندگان
چکیده
منابع مشابه
Cholesterol turnover and metabolism in two patients with abetalipoproteinemia.
Total body turnover of cholesterol was studied in two patients with abetalipoproteinemia, a 32-year-old man and a 31-year-old woman. The patients received [14C]cholesterol intravenously, and the resulting specific activity-time curves (for 40 and 30 weeks, respectively) were fitted with a three-pool model. Parameters were compared with those from studies of cholesterol turnover in 82 normal and...
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چکیده ندارد.
Abetalipoproteinemia: two case reports and literature review
Abetalipoproteinemia (ABL, OMIM 200100) is a rare, autosomal recessive disorder, characterized by fat malabsorption, acanthocytosis and hypocholesterolemia in infancy. Later in life, deficiency of fat-soluble vitamins is associated with development of atypical retinitis pigmentosa, coagulopathy, posterior column neuropathy and myopathy. ABL results from mutations in the gene encoding the large ...
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In vivo studies have shown abnormalities in cholesterol and bile acid metabolism in primary hyperlipoproteinemia (HLP). The aim of the present investigation was to determine if the increased production of cholesterol in HLP type IV can be attributed to a correspondingly high level of the hepatic 3-hydroxy-3-methylglutaryl (HMG) CoA reductase activity and if the low cholic acid: chenodeoxycholic...
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ژورنال
عنوان ژورنال: Journal of Lipid Research
سال: 1983
ISSN: 0022-2275
DOI: 10.1016/s0022-2275(20)37859-7