Article
Tangier disease: epidemiology, pathophysiology, and management.
American journal of cardiovascular drugs : drugs, devices, and other interventions - 1 Oct 2012
Puntoni Mariarita, Sbrana Francesco, Bigazzi Federico, Sampietro Tiziana
Abstract excerpt
Tangier disease is one of the most severe forms of familial high-density lipoprotein (HDL) deficiency. Since its discovery it has been diagnosed in about 100 patients and is characterized by severe plasma deficiency or absence of HDL, apolipoprotein A-I (apoA-I, the major HDL apolipoprotein) and by accumulation of cholesteryl esters in many tissues throughout the body. The biochemical signs of this condition are...
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