1) Goldstein JL HH, Brown MS. Familial hyper-cholesterolemia. 8th ed. vol. 2. New York: McGraw-Hill; 2001. p. 2863-913
|
|
|
2) Innerarity TL, Mahley RW, Weisgraber KH, et al. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hyper-cholesterolemia. J Lipid Res. 1990; 31: 1337-49
|
|
|
3) Abifadel M, Varret M, Rabes JP, et al. Mutations in PCSK9 cause autosomal dominant hyper-cholesterolemia. Nat Genet. 2003; 34: 154-6
|
|
|
4) Garcia CK, Wilund K, Arca M, et al. Autosomal recessive hypercholesterolemia caused by muta-tions in a putative LDL receptor adaptor protein. Science. 2001; 292: 1394-8
|
|
|
5) Pullinger CR, Eng C, Salen G, et al. Human cholesterol 7alpha-hydroxylase (CYP7A1) defi-ciency has a hypercholesterolemic phenotype. J Clin Invest. 2002; 110: 109-17
|
|
|
6) Hubacek JA, Berge KE, Cohen JC, et al. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat. 2001; 18: 359-60
|
|
|
7) 日本動脈硬化学会. 動脈硬化性疾患予防ガイドライン2007年版
|
|
|
8) Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA. 2001; 285: 1434-503
|
|
|
9) Prevention of coronary heart disease in clinical practice. Recommendations of the Second Joint Task Force of European and other Societies on coronary prevention. Eur Heart J. 1998; 19: 1434-503
|
|
|
10) JBS 2: Joint British Societies' guidelines on prevention of cardiovascular disease in clinical practice. Heart. 2005; 91 Suppl 5: v1-52
|
|
|
11) Civeira F. Guidelines for the diagnosis and management of heterozygous familial hyper-cholesterolemia. Atherosclerosis. 2004; 173: 55-68
|
|
|
12) Hopkins PN. Familial hypercholesterolemia--improving treatment and meeting guidelines. Int J Cardiol. 2003; 89: 13-23
|
|
|
13) Sullivan D. Guidelines for the diagnosis and management of familial hypercholesterolaemia. Heart Lung Circ. 2007; 16: 25-7
|
|
|
14) Goldstein JL, Brown MS. The LDL receptor locus and the genetics of familial hypercholesterol-emia. Annu Rev Genet. 1979; 13: 259-89
|
|
|
15) Kwiterovich PO Jr, Levy RI, Fredrickson DS. Neonatal diagnosis of familial type-II hyper-lipoproteinaemia. Lancet. 1973; 1: 118-21
|
|
|
16) Kwiterovich PO, Jr., Fredrickson DS, Levy RI. Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhood. J Clin Invest. 1974; 53: 1237-49
|
|
|
17) Schrott HG, Goldstein JL, Hazzard WR, et al. Familial hypercholesterolemia in a large kindred. Evidence for a monogenic mechanism. Ann Intern Med. 1972; 76: 711-20
|
|
|
18) Mabuchi H, Koizumi J, Shimizu M, Takeda R. Development of coronary heart disease in famil-ial hypercholesterolemia. Circulation. 1989; 79: 225-32
|
|
|
19) Yamamoto A, Kamiya T, Yamamura T, et al. Clinical features of familial hypercholesterolemia. Arteriosclerosis. 1989; 9 1 Suppl: I66-74
|
|
|
20) 斯波真理子. FHにおける複合型高脂血症. 厚生労働科学研究費補助金 難治性疾患克服研究事業 原発性高脂血症に関する調査研究 平成18年度報告書. 2006年3月
|
|
|
21) Khachadurian AK, Uthman SM. Experiences with the homozygous cases of familial hypercholeste-rolemia. A report of 52 patients. Nutr Metab. 1973; 15: 132-40
|
|
|
22) Khachadurian AK. The inheritance of essential familial hypercholesterolemia. Am J Med. 1964; 37: 402-7
|
|
|
23) Beppu S, Minura Y, Sakakibara H, et al. Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic assessment. Circulation. 1983; 67: 878-84
|
|
|
24) Haitas B, Baker SG, Meyer TE, et al. Natural history and cardiac manifestations of homo-zygous familial hypercholesterolaemia. Q J Med. 1990; 76: 731-40
|
|
|
25) Makino H, Harada-Shiba M. Long-term effect of low-density lipoprotein apheresis in patients with homozygous familial hypercholesterolemia. Ther Apher Dial. 2003; 7: 397-401
|
|
|
26) Bujo H, Takahashi K, Saito Y, et al. Clinical features of familial hypercholesterolemia in Japan in a database from 1996-1998 by the research committee of the ministry of health, labour and welfare of Japan. J Atheroscler Thromb. 2004; 11: 146-51
|
|
|
27) Fredrickson DS LR. Familial hyperlipo-proteinemia. 3rd ed. New York: McGraw-Hill; 1972. p. 545
|
|
|
28) Heiberg A. The lipoprotein and lipid pattern in xanthomatosis. Acta Med Scand. 1975; 198: 183-95
|
|
|
29) Gofman JW, Rubin L, Mc GJ, et al. Hyperlipo-proteinemia. Am J Med. 1954; 17: 514-20
|
|
|
30) Sprecher DL, Schaefer EJ, Kent KM, et al. Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patients. Am J Cardiol. 1984; 54: 20-30
|
|
|
31) Postiglione A, Nappi A, Brunetti A, et al. Relative protection from cerebral atherosclerosis of young patients with homozygous familial hyper-cholesterolemia. Atherosclerosis. 1991; 90: 23-30
|
|
|
32) Hill JS, Hayden MR, Frohlich J, et al. Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia. Arterioscler Thromb. 1991; 11: 290-7
|
|
|
33) Ferrieres J, Lambert J, Lussier-Cacan S, et al. Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation. Circulation. 1995; 92: 290-5
|
|
|
34) Hirobe K, Matsuzawa Y, Ishikawa K, et al. Coronary artery disease in heterozygous familial hypercholesterolemia. Atherosclerosis. 1982; 44: 201-10
|
|
|
35) Seed M, Hoppichler F, Reaveley D, et al. Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hyper-cholesterolemia. N Engl J Med. 1990; 322: 1494-9
|
|
|
36) Wiklund O, Angelin B, Olofsson SO, et al. Apolipoprotein(a) and ischaemic heart disease in familial hypercholesterolaemia. Lancet. 1990; 335: 1360-3
|
|
|
37) Alonso R, Castillo S, Civeira F, et al. Hetero-zygous familial hypercholesterolemia in Spain. Description of 819 non related cases. Med Clin (Barc). 2002; 118: 487-92
|
|
|
38) Kita Y, Shimizu M, Sugihara N, et al. Abdominal aortic aneurysms in familial hypercholesterol-emia--case reports. Angiology. 1993; 44: 491-9
|
|
|
39) Takahashi T, Nakano S, Shimazaki Y, et al. Long-term appraisal of coronary bypass operations in familial hypercholesterolemia. Ann Thorac Surg. 1993; 56: 499-505
|
|
|
40) Mabuchi H, Miyamoto S, Ueda K, et al. Causes of death in patients with familial hypercholes-terolemia. Atherosclerosis. 1986; 61: 1-6
|
|
|
41) Brunzell JD, Albers JJ, Chait A, et al. Plasma lipoproteins in familial combined hyperlipidemia and monogenic familial hypertriglyceridemia. J Lipid Res. 1983; 24: 147-55
|
|
|
42) Austin MA, Horowitz H, Wijsman E, et al. Bimodality of plasma apolipoprotein B levels in familial combined hyperlipidemia. Atherosclerosis. 1992; 92: 67-77
|
|
|
43) Innerarity TL, Weisgraber KH, Arnold KS, et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A. 1987; 84: 6919-23
|
|
|
44) Yu W, Nohara A, Higashikata T, et al. Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population. Atherosclerosis. 2002; 165: 335-42
|
|
|
45) 寺本民生. スタチンの安全性評価と臨床的意義—米国NLAレポートより—. 薬理と治療. 2006; 34: 931-5
|
|
|
46) Edison RJ, Muenke M. Central nervous system and limb anomalies in case reports of first-trimester statin exposure. N Engl J Med. 2004; 350: 1579-82
|
|
|
47) Levy RI, Fredrickson DS, Stone NJ, et al. Cholestyramine in type II hyperlipoproteinemia. A double-blind trial. Ann Intern Med. 1973; 79: 51-8
|
|
|
48) Uauy R, Vega GL, Grundy SM, et al. Lovastatin therapy in receptor-negative homozygous familial hypercholesterolemia: lack of effect on low-density lipoprotein concentrations or turnover. J Pediatr. 1988; 113: 387-92
|
|
|
49) Yamamoto A, Matsuzawa Y, Kishino B, et al. Effects of probucol on homozygous cases of familial hypercholesterolemia. Atherosclerosis. 1983; 48: 157-66
|
|
|
50) Baker SG, Joffe BI, Mendelsohn D, et al. Treatment of homozygous familial hypercholes-terolaemia with probucol. S Afr Med J. 1982; 62: 7-11
|
|
|
51) Jones DB, Simpson HC, Slaughter P, et al. A comparison of cholestyramine and probucol in the treatment of familial hypercholesterolaemia. Atherosclerosis. 1984; 53: 1-7
|
|
|
52) Buckley MM, Goa KL, Price AH, et al. Probucol. A reappraisal of its pharmacological properties and therapeutic use in hypercholesterolaemia. Drugs. 1989; 37: 761-800
|
|
|
53) Stefanutti C, Di Giacomo S, Vivenzio A, et al. Low-density lipoprotein apheresis in a patient aged 3. 5 years. Acta Paediatr. 2001; 90: 694-701
|
|
|