Abstract
The understanding of genetic disorders affecting lipoprotein metabolism is useful as a guide to accurate diagnosis and effective treatment. The characterization of these disorders has been and will continue to be very important not only to better dissect the complicated pathways of lipid metabolism, but also to guide the identification of new therapeutic targets for the treatment of more common forms of dyslipidemia. Indeed, the study of monogenic conditions such as familial hypercholesterolemia and CETP deficiency led directly to the development of novel therapeutic approaches such as statins and CETP inhibitors. A classification of the genetic disorders of lipoprotein metabolism and their molecular etiology is summarized in the Table 1.
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