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skos:definition |
JABL: Intestinal fat transport defect with hypobetalipoproteinemia and accumulation of apolipoprotein B-like protein in intestinal cells, deficient blood apolipoproteins, and avitaminosis E manifested by malnutrition, steatorrhea, and growth and mental retardation. Some clinical (but not biochemical) manifestations may disappear later in life.
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