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Acanthocytosis and disordered lipoprotein metabolism are inextricably linked in medical history. The term “acanthocytosis” was itself coined a half-century ago to describe the dysmorphic erythrocytes seen in abetalipoproteinemia (ABL), a complex metabolic disorder that is characterised by fat malabsorption, atypical retinitis pigmentosa and spinocerebellar ataxia. ABL results from mutation in the...
Ultrasound measurements are both surrogate markers and risk factors for atherosclerosis end points. Carotid intima-media thickness (IMT) is most commonly used, but ultrasound can also define structures in higher spatial dimensions, such as total plaque area (TPA) and total plaque volume (TPV). Because there are minimal data regarding the relationship between IMT, TPA and TPV, we measured these variables...
Objectives: Familial chylomicronemia syndrome is characterized by massive accumulation of plasma chylomicrons, which typically results from an absolute deficiency of lipoprotein lipase (LPL). Chylomicronemia in pregnancy is a rare, but serious clinical problem and can be found in patients with underlying molecular defects in the LPL gene. We report the course and treatment of an 18 yr-old primigravida...
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