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Læknablaðið - 15.06.2001, Page 18

Læknablaðið - 15.06.2001, Page 18
FRÆÐIGREINAR / HJARTASJÚKDÓMAR genetic locus. Cell 1976; 9:195-203. 3. Goldstein JL, Hobbs HH, Brown MS. Familial Hypercholesterolemia. In: Scriver C, ed. The Metabolic Bases of Inherited Diseases. 7th ed. New York: McGraw-Hill Companies; 1994:1981-2029. 4. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 1973; 52:1544-68. 5. Mabuchi H, Miyamoto S, Ueda K, Oota M, Takegoshi T, Wakasugi T, et al. Causes of death in patients with familial hypercholesterolemia. Atherosclerosis 1986; 61:1-6. 6. Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969; 2:1380-2. 7. Jensen J, Blankenhorn DH, Kornerup V. Coronary disease in familial hypercholesterolemia. Circulation 1967; 36: 77-82. 8. Heiberg A. The risk of atherosclerotic vascular disease in subjects with xanthomatosis. Acta Med Scand 1975; 198: 249- 61. 9. Stone NJ, Levy RI, Fredrickson DS, Verter J. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation 1974; 49:476-88. 10. Beaumont V, Jacotot B, Beaumont JL. Ischaemic disease in men and women with familial hypercholesterolaemia and xanthomatosis. A comparative study of genetic and environmental factors in 274 heterozygous cases. Atherosclerosis 1976; 24: 441-50. 11. Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991; 303: 893-6. 12. Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis 1999; 142:105-12. 13. Williams RR, Schumacher MC, Barlow GK, Hunt SC, Ware JL, Pratt M, et al. Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah. Am J Cardiol 1993; 72:18D-24D. 14. Havel RJ, Hunninghake DB, Illingworth DR, Lees RS, Stein EA, Tobert JA, et al. Lovastatin (mevinolin) in the treatment of heterozygous familial hypercholesterolemia. A multicenter study. Ann Intern Med 1987; 107: 609-15. 15. Kane JP, Malloy MJ, Ports TA, Phillips NR, Diehl JC, Havel RJ. Regression of coronary atherosclerosis during treatment of familial hypercholesterolemia with combined drug regimens. JAMA 1990; 264: 3007-12. 16. Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: The Scandinavian Simvastatin Survival Study (4S). Lancet 1994; 344:1383-9. 17. Shepherd J, Cobbe SM, Ford I, Isles CG, Lorimer AR, MacFarlane PW, et al. Prevention of coronary heart disease with pravastatin in men with hypercholesterolemia. West of Scotland Coronary Prevention Study Group. N Engl J Med 1995; 333:1301-7. 18. The Iow density lipoprotein receptor (LDLR) gene in familial hypercholesterolemia. http://www.ucl.ac.uk/fh/ 19. Gudnason V, Sigurdsson G, Nissen H, Humphries SE. Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population. Hum Mutat 1997; 10: 36-44. 20. Taylor R, Bryant J, Gudnason V, Sigurdsson G, Humphries S. A study of familial hypercholesterolaemia in Iceland using RFLPs. J Med Genet 1989; 26: 494-8. 21. Kotze MJ, De Villiers WJ, Steyn K, Kriek JA, Marais AD, Langenhoven E, et al. Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations. Arterioscler Thromb 1993; 13:1460-8. 22. Hunt SC, Hopkins PN, Bulka K, McDermott MT, Thorne TL, Wardell BB, et al. Genetic localization to chromosome lp32 of the third locus for familial hypercholesterolemia in a Utah kindred. Arterioscler Thromb Vasc Biol 2000; 20:1089-93. 23. Guðnason V, Sigurðsson G, Humphries S. Notkun ensím- hvattrar fjölföldunar á DNA til að skima eftir erfðagalla í apóprótíni-B í íslenskum fjölskyldum med hátt kólesteról í sermi. Læknablaðið 1990; 76: 431-6. 518 Læknablaðið 2001/87

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