1. Endo A:The discovery and development of HMG-CoA reductase inhibitors.J Lipid Res 1992,33:1569–1582.

   PubMed CAS  Google Scholar 

2. Yamamoto A, Sudo H, Endo A:Therapeutic effects of ML-236B in primary hypercholesterolaemia.Atherosclerosis 1980,35:259–266.

   Article PubMed CAS  Google Scholar 

3. Uauy R, Vega GL, Grundy SM, Bilheimer DM:Lovastatin therapy in receptor-negative homozygous familial hypercholesterolaemia: lack of effect on low-density lipoprotein concentrations or turnover.J Pediatr 1988,113:387–392.

   Article PubMed CAS  Google Scholar 

4. Thompson GR, Ford J, Jenkinson M, Trayner I:Efficacy of mevinolin as adjuvant therapy for refractory familial hypercholesterolaemia.QJM 1986,232:803–811.

   Google Scholar 

5. Norman D, Sun X, Bourbon M,et al.:Characterization of a novel cellular defect in patients with phenotypic homozygous hypercholesterolaemia.J Clin Invest 1999,104:619–628.

   PubMed CAS  Google Scholar 

6. Garcia CK, Wilund K, Arca M,et al.:Autosomal recessive hypercholesterolaemia caused by mutations in a putatative LDL receptor adaptor protein.Science 2001,292:1310–1312.

   Article  Google Scholar 

7. Rubinsztein DC, Raal FJ, Seftel HC,et al.:Characterization of six patients who are double hetrozygotes for familial hypercholesterolaemia and familial defective Apo B-100.Arterioscler Thromb Vasc Biol 1993,13:1076–1081.

   CAS  Google Scholar 

8. Benlian P, de Gennes JL, Dairou F,et al.:Phenotypic expression in double heterozygotes for familial hypercholesterolaemia and familial defective apolipoprotein B-100.Hum Mutat 1996,7:340–345.

   Article PubMed CAS  Google Scholar 

9. März W, Baumstark MW, Scharnagl H,et al.:Accumulation of “small dense” low density lipoproteins (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor.J Clin Invest 1993,92:2922–2933.

   Article PubMed  Google Scholar 

10. Gallagher JJ, Myant NB:The affinity of low-density lipoproteins and of very-low-density lipoprotein remnants for the low-density lipoprotein receptor in homozygous familial defective apolipoprotein B-100.Atherosclerosis 1995,115:263–272.

    Article PubMed CAS  Google Scholar 

11. Goldstein J, Hobbs HH, Brown MS:Familial hypercholesterolaemia. InThe Metabolic and Molecular Basis of Inherited Disease. Edited by Scriver A, Beadet W, Sly S, Valle D. New York: McGraw-Hill; 1995:1981–2030.

    Google Scholar 

12. Mahley RW, Ji Z:Remnant lipoprotein metabolism: key pathways involving cell-surface heparan sulfate proteoglycans and apolipoprotein.Eur J Lipid Res 1999,40:1–16.

    CAS  Google Scholar 

13. Watts GF, Cummings MH, Umpleby M,et al.:Simvastatin decreases the hepatic secretion of very-low-density lipoprotein apolipoprotein B-100 in heterozygous familial hypercholesterolaemia:pathophysiological and therapeutic implications.Eur J Clin Invest 1995,25:559–567.

    PubMed CAS  Google Scholar 

14. Wetterau JR, Gregg RE, Harrity TW,et al.:An MTP inhibitor that normalizes atherogenic lipoprotein levels in WHHL rabbits.Science 1998,282:751–754.

    Article PubMed CAS  Google Scholar 

15. Farnier M, Stein E, Megnien S,et al.:Efficacy and Safety of Implitapide, a Microsomal Triglyceride Transfer Protein Inhibitor in Patients with Primary Hypercholesterolemia. XIV International Symposium on Drugs Affecting Lipid Metabolism 2001. New York: Giovanni Lorenzini Medical Foundation; 2001:46.

    Google Scholar 

16. Yamamoto A, Matsuzawa Y, Kishino B, Hayashi R, Kikkawa T:Effects of probucol on homozygous cases of familial hypercholesterolaemia.Atherosclerosis 1983,48:157–166.

    Article PubMed CAS  Google Scholar 

17. Baker SG, Joffe BI, Mendelsohn D, Seftel HC:Treatment of homozygous familial hypercholesterolaemia with probucol.S Afr Med J 1982,62:7–11.

    PubMed CAS  Google Scholar 

18. Starzl TE, Chase P, Ahrens EH,et al.:Portocaval shunt in patients with familial hypercholesterolemia.Ann Surg 1983,198:273–283.

    PubMed CAS  Google Scholar 

19. Issa JS, Garrido A, Giannini SD,et al.:Clinical outcome of patients with familial hypercholesterolemia and coronary artery disease undergoing partial ileal bypass surgery.Arq Bras Cardiol 2000,75:54–58.

    Article  Google Scholar 

20. Grossman M, Raper SE, Kozarsky K,et al.:Sucessful ex vivo gene therapy directed to the liver in a patient with familial hypercholesterolaemia.Nature Genet 1994,6:335–341.

    Article PubMed CAS  Google Scholar 

21. Marais AD, Wood L, Firth JC, Hall JM, Jacobs P:Plasma exchange for homozygous familial hypercholesterolaemia: the Cape Town experience.Transf Sci 1993,14:239–247.

    Article CAS  Google Scholar 

22. Marais AD, Naoumova RP, Firth JC,et al.:Decreased production of low density lipoprotein by atorvastatin after apharesis in homozygous familial hypercholesterolaemia.J Lipid Res 1997,38:2071–2078.

    PubMed CAS  Google Scholar 

23. Marais AD, Firth JC, Bateman ME,et al.:Atorvastatin: an effective lipid-modifying agent in familial hypercholesterolemia.Arterioscler Thromb Vasc Biol 1997,17:1527–1531.

    PubMed CAS  Google Scholar 

24. Laue L, Hoeg JM, Barnes K, Loriaux L, Chrousos GH:The effects of mevinolin on steroidogenesis in patients with defects in the low density lipoprotein receptor pathway.J Clin Endocrinol Metab 1987,64:531–535.

    Article PubMed CAS  Google Scholar 

25. Feher MD, Webb JC, Patel DD,et al.:Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia.Atherosclerosis 1993,103:171–180.

    Article PubMed CAS  Google Scholar 

26. Raal FJ, Pilcher GJ, Illingworth DR,et al.:Expanded-dose simvastatin is effective in homozygous familial hypercholesterolaemia.Atherosclerosis 1997,135:249–256.

    Article PubMed CAS  Google Scholar 

27. Tsimihodimos V, Miltiadous G, Elisaf M:Therapy with statins is effective in some patients with homozygous familial hypercholesterolaemia.Atherosclerosis 2000,153:527.

    Article PubMed CAS  Google Scholar 

28. Raal FJ, Pappu AS, Illingworth DR,et al.:Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia.Atherosclerosis 2000,150:421–428.

    Article PubMed CAS  Google Scholar 

29. Thiery J, Walli AK, Seidel D:Low-density lipoprotein plasmapharesis with and without lovastatin in the treatment of the homozygous form of familial hypercholesterolaemia.Eur J Pediatr 1990,149:716–721.

    Article PubMed CAS  Google Scholar 

30. Palcoux JB, Meyer M, Jouanel P,et al.:Treatment of homozygous familial hypercholesterolaemia by plasma exchange and LDL-apharesis.Transf Sci 1993,14:423–426.

    Article CAS  Google Scholar 

31. Ratanjee BD, Raal FJ, Firth JC, Marais AD:Atorvastatin lowers plasma cholesterol in homozygotes for familial hypercholesterolaemia after porto-systemia shunt operations and independently of serum bile acid concentration.Lipid Atherosclerosis Soc S Afr 1998, 23.

32. Klepack E, Raal FJ, Marais AD, Heinonen T:Effects Of Avasimibe in Patients with Severe Hypercholesterolemia.XIV International Symposium on Drugs Affecting Lipid Metabolism 2001. New York: Giovanni Lorenzini Medical Foundation; 2001:107.

    Google Scholar 

33. Gylling H, Miettinen TA:Serum Plant Sterol Levels On and Off Statin Treatment and Stanol vs Sterol Ester Consumption in a Homozygous Form of Familial Hypercholesterolemia.XIV International Symposium on Drugs Affecting Lipid Metabolism 2001. New York: Giovanni Lorenzini Medical Foundation; 2001:31.

    Google Scholar 

34. Seftel HC, Baker SG, Sandler MP,et al.:A host of hypercholesterolaemic homozygotes in South Africa.BMJ 1980,281:633–636.

    Article PubMed CAS  Google Scholar 

35. Postiglion A, Montefusco S, Pauciullo P, Mancini M:Effects of atorvasatin in patients with homozygous familial hypercholesterolaemia.Atherosclerosis 1999,147:423–424.

    Article  Google Scholar 

36. Yamamoto A, Harada-Shiba M, Kawaguchi A,et al.:The effect of atorvastatin on serum lipids and lipoproteins in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis therapy.Atherosclerosis 2000,153:89–98.

    Article PubMed CAS  Google Scholar 

Download references