Article
Management of a patient with a null low-density lipoprotein receptor mutation: a case report.
Angiology - 1 Jan 2000
Kolovou Genovefa D, Dedoussis George V Z, Anagnostopoulou Katherine K, Hatzigeorgiou George Ch, Salpea Klelia D, Choumerianou Despoina M, Rammos Spyridon, Mikhailidis Dimitri P, Cokkinos Dennis V
Abstract excerpt
A 13-year-old Greek boy with severe dyslipidemia, large tuberous xanthomas over the knees and elbows, Achilles' tendon xanthomas, and a bilateral corneal arcus was referred to the Lipid Clinic. He had a supravalvular aortic stenosis, 50% to 60% stenosis of both carotid arteries, and normal coronary arteries. Familial hypercholesterolemia was clinically diagnosed. A V408M null low-density lipoprotein receptor...
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