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[DOWNLOAD] "Assessment of Tocopherol Metabolism and Oxidative Stress in Familial Hypobetalipoproteinemia (Lipids, Lipoproteins, And Cardiovascular Risk Factors)" by Clinical Chemistry # Book PDF Kindle ePub Free

Assessment of Tocopherol Metabolism and Oxidative Stress in Familial Hypobetalipoproteinemia (Lipids, Lipoproteins, And Cardiovascular Risk Factors)

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eBook details

  • Title: Assessment of Tocopherol Metabolism and Oxidative Stress in Familial Hypobetalipoproteinemia (Lipids, Lipoproteins, And Cardiovascular Risk Factors)
  • Author : Clinical Chemistry
  • Release Date : January 01, 2006
  • Genre: Chemistry,Books,Science & Nature,
  • Pages : * pages
  • Size : 238 KB

Description

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). Approximately 60 nonsense frameshift and splicing variants in the APOB gene leading to the formation of prematurely truncated apoB forms have been reported in persons with FHBL. There is some evidence that molecular changes other than truncations of APOB can cause FHBL (1-3). Persons heterozygous for FHBL are usually asymptomatic but have plasma LDL-cholesterol and apoB concentrations that are only one fourth to one third of reference values. Other clinical manifestations are serum [alpha]-tocopherol concentrations below or at the lower limit of the reference interval and abnormal erythrocyte morphology with characteristic acanthocytes, as seen in persons with vitamin E deficiency (4). The clinical and biochemical features in homozygous and compound heterozygous FHBL can include acanthocytosis, deficiencies of fat-soluble vitamins secondary to malabsorption, an atypical form of retinitis pigmentosa, and neuromuscular abnormalities. Retinitis pigmentosa and neuromuscular abnormalities are related primarily to deficiencies in fat-soluble vitamins, especially vitamins A and E, resulting from their impaired absorption and transport.


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