D. S. Fredrickson, M.D.
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Two new disorders of cholesterol metabolism, both apparently genetically determined, have been recently uncovered. Although rare, they offer different vantage points from which to view sterol metabolism. A common feature of both is tissue storage of extraordinary amounts of cholesterol esters.
Tangier disease has now been recognized in at least 4 patients. The diagnosis may be suspected from the odd size and appearance of the tonsils in association with hypocholesterolemia. The disease is characterized by near absence of plasma high density lipoproteins (HDL), a defect which expresses itself in lesser degree in parents and other relatives. Evidence has accumulated from
Fredrickson DS. Newly Recognized Disorders of Cholesterol Metabolism.. Ann Intern Med. ;58:718. doi: 10.7326/0003-4819-58-4-718_1
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Published: Ann Intern Med. 1963;58(4):718.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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