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ABL abetalipoproteinemia; acceptable blood loss; African Burkitt lymphoma; Albright-Butler-Lightwood [sy...
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ABL Abetalipoproteinemia
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  • Abetalipoproteinemia - »õâ An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL.
    Synonyms : Bassen-Kornzweig Disease, Microsomal Triglyceride Transfer Protein Deficiency Disease, Bassen Kornzweig Disease, Bassen Kornzweig Syndrome
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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
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abetalipoproteinemia a rare inherited disorder of fat metabolism
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