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Volumn 49, Issue 3, 2005, Pages 133-139

Genetics of serum lipoprotein disorders;Genski poremećaji serumskih lipoproteina

Author keywords

Dyslipidemias genetics, complications, therapy; Hyperlipidemia genetics, complications, therapy; Hypertriglyceridemia genetics, complications, therapy

Indexed keywords

APOLIPOPROTEIN B100; APOLIPOPROTEIN C2; CHOLESTEROL; LIPOPROTEIN; LIVER TRIACYLGLYCEROL LIPASE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; PHOSPHATIDYLCHOLINE STEROL ACYLTRANSFERASE; SITOSTEROL;

EID: 27544438206     PISSN: 13301403     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (4)

References (74)
  • 2
    • 0022259920 scopus 로고
    • The LDL receptor gene: A mosaic of exons shared with different proteins
    • Sudhof TC, Goldstein JL, Brown MS, Russel DW. The LDL receptor gene: a mosaic of exons shared with different proteins. Science 1985;228:815-22.
    • (1985) Science , vol.228 , pp. 815-822
    • Sudhof, T.C.1    Goldstein, J.L.2    Brown, M.S.3    Russel, D.W.4
  • 3
    • 0035197537 scopus 로고    scopus 로고
    • Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: Update, new features and mutation analysis
    • Heath KE, Gahan M, Whittall RA, Humphries SE. Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis. Atherosclerosis 2001;154:243-6.
    • (2001) Atherosclerosis , vol.154 , pp. 243-246
    • Heath, K.E.1    Gahan, M.2    Whittall, R.A.3    Humphries, S.E.4
  • 4
    • 8844228187 scopus 로고    scopus 로고
    • Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia
    • Muller PY, Miserez AR. Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia. Atherosclerosis 2004;(Suppl 5):1-5.
    • (2004) Atherosclerosis , Issue.SUPPL. 5 , pp. 1-5
    • Muller, P.Y.1    Miserez, A.R.2
  • 7
    • 0037045847 scopus 로고    scopus 로고
    • Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: A clinical and molecular genetic analysis
    • Area M, Zuliani G, Wilund K, Campagna F, Fellin R, Bertolini S. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet 2002;359:841-7.
    • (2002) Lancet , vol.359 , pp. 841-847
    • Area, M.1    Zuliani, G.2    Wilund, K.3    Campagna, F.4    Fellin, R.5    Bertolini, S.6
  • 8
    • 0027301629 scopus 로고
    • Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
    • Williams RR, Hunt SC, Schumacher C, Hegele RA, Leppert MF, Ludwig EH. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993;72:171-6.
    • (1993) Am J Cardiol , vol.72 , pp. 171-176
    • Williams, R.R.1    Hunt, S.C.2    Schumacher, C.3    Hegele, R.A.4    Leppert, M.F.5    Ludwig, E.H.6
  • 9
    • 0025944056 scopus 로고
    • Risk of fatal coronary heart disease in familial hypercholesterolaemia
    • Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991;303:893-6.
    • (1991) BMJ , vol.303 , pp. 893-896
  • 11
    • 0035058910 scopus 로고    scopus 로고
    • A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH)
    • Heath KE, Humphries SE, Middelton-Price H, Boxer M. A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH). Eur J Hum Gen 2001;9:244-52.
    • (2001) Eur J Hum Gen , vol.9 , pp. 244-252
    • Heath, K.E.1    Humphries, S.E.2    Middelton-Price, H.3    Boxer, M.4
  • 12
    • 0032993468 scopus 로고    scopus 로고
    • The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia
    • Heath KE, Gudnason V, Humphries SE, Seed M. The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. Atherosclerosis 1999;143:41-54.
    • (1999) Atherosclerosis , vol.143 , pp. 41-54
    • Heath, K.E.1    Gudnason, V.2    Humphries, S.E.3    Seed, M.4
  • 14
    • 0036607353 scopus 로고    scopus 로고
    • A cost-effectiveness analysis of different approaches to screening for familial hypercholesterolaemia
    • Marks D, Wonderling D, Thorogood M, Lambert H, Humphries SE, Neil HAW. A cost-effectiveness analysis of different approaches to screening for familial hypercholesterolaemia. BMJ 2002;324:1303-6.
    • (2002) BMJ , vol.324 , pp. 1303-1306
    • Marks, D.1    Wonderling, D.2    Thorogood, M.3    Lambert, H.4    Humphries, S.E.5    Haw, N.6
  • 16
    • 0037326907 scopus 로고    scopus 로고
    • Systematic family screening for familial hypercholesterolemia in Iceland
    • Thorsson B, Sigurdsson G, Gudnason V. Systematic family screening for familial hypercholesterolemia in Iceland. Arterioscler Thromb Vasc Biol 2003;23:335-8.
    • (2003) Arterioscler Thromb Vasc Biol , vol.23 , pp. 335-338
    • Thorsson, B.1    Sigurdsson, G.2    Gudnason, V.3
  • 17
    • 0027372798 scopus 로고
    • Identification and treatment of heterozygous familial hypercholesterolemia in children and adolescents
    • Kwiterovich PO Jr. Identification and treatment of heterozygous familial hypercholesterolemia in children and adolescents. Am J Cardiol 1993;72:30D-70D.
    • (1993) Am J Cardiol , vol.72
    • Kwiterovich Jr., P.O.1
  • 18
    • 0028800204 scopus 로고
    • The detection and management of dyslipidaemia in children and adolescents
    • Ose L, Tonstad S. The detection and management of dyslipidaemia in children and adolescents. Acta Paediatr 1995;84:1213-5.
    • (1995) Acta Paediatr , vol.84 , pp. 1213-1215
    • Ose, L.1    Tonstad, S.2
  • 20
    • 0031734356 scopus 로고    scopus 로고
    • Lipid and lipoprotein profiles in children with familial hypercholesterolaemia: Effects of therapy
    • Hennermann JB, Herwig J, Marz W, Asskali F, Bohles HJ. Lipid and lipoprotein profiles in children with familial hypercholesterolaemia: effects of therapy. Eur J Pediatr 1998;157:912-8.
    • (1998) Eur J Pediatr , vol.157 , pp. 912-918
    • Hennermann, J.B.1    Herwig, J.2    Marz, W.3    Asskali, F.4    Bohles, H.J.5
  • 21
    • 0032890205 scopus 로고    scopus 로고
    • Mortality in treated heterozigous familial hypercholesterolaemia: Implications for clinical management
    • Scientific Steering Committee on behalf of the Simon Broome Register Group. Mortality in treated heterozigous familial hypercholesterolaemia: implications for clinical management. Atherosclerosis 1999;142:105-12.
    • (1999) Atherosclerosis , vol.142 , pp. 105-112
  • 22
    • 0033550478 scopus 로고    scopus 로고
    • Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: A randomized controlled trial
    • Stein EA, Illingworth DR, Kwiterovich PO, Jr, Liacouras CA, Siimes MA, Jacobson MS. Efficacy and safety of lovastatin in adolescent males with heterozygous familial hypercholesterolemia: a randomized controlled trial. JAMA 1999;281:137-44.
    • (1999) JAMA , vol.281 , pp. 137-144
    • Stein, E.A.1    Illingworth, D.R.2    Kwiterovich Jr., P.O.3    Liacouras, C.A.4    Siimes, M.A.5    Jacobson, M.S.6
  • 23
    • 0035941786 scopus 로고    scopus 로고
    • Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): A prospective, randomised, double-blind trial
    • Smilde TJ, van Wissen S, Wollerheim H, Trip MD, Kastelein JJP, Stalenhoef AFH. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet 2001;357:577-81.
    • (2001) Lancet , vol.357 , pp. 577-581
    • Smilde, T.J.1    Van Wissen, S.2    Wollerheim, H.3    Trip, M.D.4    Kastelein, J.J.P.5    Stalenhoef, A.F.H.6
  • 24
    • 1842431592 scopus 로고    scopus 로고
    • Statini u primarnoj i sekundarnoj prevenciji koronarne bolesti
    • Reiner Ž. Statini u primarnoj i sekundarnoj prevenciji koronarne bolesti, Medicus 2003;12:85-90.
    • (2003) Medicus , vol.12 , pp. 85-90
    • Reiner, Ž.1
  • 25
    • 0037188567 scopus 로고    scopus 로고
    • Efficacy and safety of Ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolaemia
    • Gagne C, Gaudet D, Bruckert E. Efficacy and safety of Ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolaemia. Circulation 2002;105:2469-75.
    • (2002) Circulation , vol.105 , pp. 2469-2475
    • Gagne, C.1    Gaudet, D.2    Bruckert, E.3
  • 26
    • 0029103672 scopus 로고
    • Familial hypercholesterolaemia regression study: A randomised trial of low-density-lipoprotein apheresis
    • Thompson GR, Mahler VM, Matthews S, Kitano Y, Neuwirth C, Shortt MB. Familial hypercholesterolaemia regression study: a randomised trial of low-density-lipoprotein apheresis. Lancet 1995;345:811-6.
    • (1995) Lancet , vol.345 , pp. 811-816
    • Thompson, G.R.1    Mahler, V.M.2    Matthews, S.3    Kitano, Y.4    Neuwirth, C.5    Shortt, M.B.6
  • 27
    • 0031877776 scopus 로고    scopus 로고
    • Effect of HELP-LDL-apheresis on outcomes in patients with advanced coronary atherosclerosis and severe hypercholesterolaemia
    • Park JW, Merz M, Braun P. Effect of HELP-LDL-apheresis on outcomes in patients with advanced coronary atherosclerosis and severe hypercholesterolaemia. Atherosclerosis 1998;139:401-9.
    • (1998) Atherosclerosis , vol.139 , pp. 401-409
    • Park, J.W.1    Merz, M.2    Braun, P.3
  • 28
    • 0033358541 scopus 로고    scopus 로고
    • Extracorporeal treatment for refractory hyperlipidemia
    • Kes P, Reiner Z. Extracorporeal treatment for refractory hyperlipidemia. Acta Med Croatica 1999;53:83-92.
    • (1999) Acta Med Croatica , vol.53 , pp. 83-92
    • Kes, P.1    Reiner, Z.2
  • 29
    • 0347999669 scopus 로고    scopus 로고
    • Die allogene Lebertransplantation - Eine Form der "Gentherapie" bei metabolishen Erkrankungen. Muenchener Ergebnisse und Uebersicht
    • Stangl MJ, Beuers U, Schauer R, Lang T, Gerbes A, Briegel J. Die allogene Lebertransplantation - eine Form der "Gentherapie" bei metabolishen Erkrankungen. Muenchener Ergebnisse und Uebersicht. Chirurg 2000;71:808-19.
    • (2000) Chirurg , vol.71 , pp. 808-819
    • Stangl, M.J.1    Beuers, U.2    Schauer, R.3    Lang, T.4    Gerbes, A.5    Briegel, J.6
  • 30
    • 0028292602 scopus 로고
    • Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia
    • Grossman M, Raper SE, Kozarsky K, Stein EA, Engelhardt JF, Muller DW. Successful ex vivo gene therapy directed to liver in a patient with familial hypercholesterolaemia. Nat Genet 1994;6:335-41.
    • (1994) Nat Genet , vol.6 , pp. 335-341
    • Grossman, M.1    Raper, S.E.2    Kozarsky, K.3    Stein, E.A.4    Engelhardt, J.F.5    Muller, D.W.6
  • 32
    • 0026779207 scopus 로고
    • Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolaemia and premature coronary artery disease
    • Tybjaerg-Hansen A, Humphries S. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolaemia and premature coronary artery disease. Atherosclerosis 1992;96:91-107.
    • (1992) Atherosclerosis , vol.96 , pp. 91-107
    • Tybjaerg-Hansen, A.1    Humphries, S.2
  • 33
    • 16944364700 scopus 로고    scopus 로고
    • Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries
    • Hansen PS, Defesche JC, Kastelein JJP. Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries. Arterioscler Thromb Vasc Biol 1997;17:741-7.
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 741-747
    • Hansen, P.S.1    Defesche, J.C.2    Kastelein, J.J.P.3
  • 34
    • 0029094386 scopus 로고
    • Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
    • Miserez AR, Keller W. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1995;15:1719-29.
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1719-1729
    • Miserez, A.R.1    Keller, W.2
  • 35
    • 1642272311 scopus 로고    scopus 로고
    • Promjena načina života - Ključni čimbenik u lijecenju hiperlipidemija
    • Reiner Ž. Promjena načina života - ključni čimbenik u lijecenju hiperlipidemija. Medicus 2000;9:49-58.
    • (2000) Medicus , vol.9 , pp. 49-58
    • Reiner, Ž.1
  • 36
    • 0037483699 scopus 로고    scopus 로고
    • Lipoprotein disorders and cardiovascular risk
    • Genest J. Lipoprotein disorders and cardiovascular risk. J Inherit Metab Dis 2003;26:267-87.
    • (2003) J Inherit Metab Dis , vol.26 , pp. 267-287
    • Genest, J.1
  • 37
    • 27544435071 scopus 로고
    • The effects of omega-3 fatty acids on serum lipoproteins and apoproteins in patients with hyperlipoproteinaemia
    • Reiner Ž, Salzer B. The effects of omega-3 fatty acids on serum lipoproteins and apoproteins in patients with hyperlipoproteinaemia. Period Biol 1993;95:484.
    • (1993) Period Biol , vol.95 , pp. 484
    • Reiner, Ž.1    Salzer, B.2
  • 38
    • 0033016308 scopus 로고    scopus 로고
    • Lipoprotein lipase gene mutations, plasma lipid levels, progression/regression of coronary atheroslerosis, response to therapy, and future clinical events: Lipoproteins and coronary atherosclerosis study
    • Sing K, Ballantyne CM, Ferlic L. Lipoprotein lipase gene mutations, plasma lipid levels, progression/regression of coronary atheroslerosis, response to therapy, and future clinical events: lipoproteins and coronary atherosclerosis study. Atherosclerosis 1999;144:435-42.
    • (1999) Atherosclerosis , vol.144 , pp. 435-442
    • Sing, K.1    Ballantyne, C.M.2    Ferlic, L.3
  • 40
    • 0029808302 scopus 로고    scopus 로고
    • Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
    • Benlian P, De Gennes JL, Foubert L. Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene. N Engl J Med 1996;375:848-54.
    • (1996) N Engl J Med , vol.375 , pp. 848-854
    • Benlian, P.1    De Gennes, J.L.2    Foubert, L.3
  • 41
    • 0027227341 scopus 로고
    • n-fatty acids from fish oil: Effects on plasma lipoproteins and hypertriglyceridemic patients
    • Connor WE, DeFrancesco C, Connor SL. n-fatty acids from fish oil: Effects on plasma lipoproteins and hypertriglyceridemic patients. Ann NY Acad Sci 1993;683:16-34.
    • (1993) Ann NY Acad Sci , vol.683 , pp. 16-34
    • Connor, W.E.1    Defrancesco, C.2    Connor, S.L.3
  • 42
    • 27544494495 scopus 로고    scopus 로고
    • Omega-3 masne kiseline u prevenciji kardiovaskularnih bolesti
    • Tedeschi-Reiner E, Reiner Ž. Omega-3 masne kiseline u prevenciji kardiovaskularnih bolesti. Medix 2002;8:29-30.
    • (2002) Medix , vol.8 , pp. 29-30
    • Tedeschi-Reiner, E.1    Reiner, Ž.2
  • 43
    • 0025974363 scopus 로고
    • The familial hyperchylomicronemia syndrome
    • Fojo SS, Brewer HB Jr. The familial hyperchylomicronemia syndrome. JAMA 1991;265:904-8.
    • (1991) JAMA , vol.265 , pp. 904-908
    • Fojo, S.S.1    Brewer Jr., H.B.2
  • 44
    • 0038443025 scopus 로고    scopus 로고
    • Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy
    • Wilson CJ, Oliva CP, Maggi F, Catapano AL, Calandra S. Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy. Ann Neurol 2003;53:807-10.
    • (2003) Ann Neurol , vol.53 , pp. 807-810
    • Wilson, C.J.1    Oliva, C.P.2    Maggi, F.3    Catapano, A.L.4    Calandra, S.5
  • 47
    • 0033362163 scopus 로고    scopus 로고
    • A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11
    • Aouizerat BE, Allayee H, Cantor RM, Davis RC. A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. Am J Human Genet 1999;65:397-412.
    • (1999) Am J Human Genet , vol.65 , pp. 397-412
    • Aouizerat, B.E.1    Allayee, H.2    Cantor, R.M.3    Davis, R.C.4
  • 48
    • 24144455710 scopus 로고    scopus 로고
    • Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides
    • e-objava prije tiskanja
    • Choon H, Xin Y, Hopkins PN, Cawthon RM, Hasstedt SJ, Hunt SC. Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides. Hum Genet 2005;16 (e-objava prije tiskanja)
    • (2005) Hum Genet , vol.16
    • Choon, H.1    Xin, Y.2    Hopkins, P.N.3    Cawthon, R.M.4    Hasstedt, S.J.5    Hunt, S.C.6
  • 49
    • 11844286928 scopus 로고    scopus 로고
    • Apolipoprotein e and familial dysbetalipoproteinemia: Clinical, biochemical, and genetic aspects
    • Smelt AH, de Beer F. Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects. Sem Vasc Med 2004;4:249-57.
    • (2004) Sem Vasc Med , vol.4 , pp. 249-257
    • Smelt, A.H.1    De Beer, F.2
  • 51
    • 11444251445 scopus 로고    scopus 로고
    • Apolipoprotein E, cholesterol transport and synthesis in sporadic Alzheimer's disease
    • Poirier J. Apolipoprotein E, cholesterol transport and synthesis in sporadic Alzheimer's disease. Neurobiol Aging 2005;26:355-61.
    • (2005) Neurobiol Aging , vol.26 , pp. 355-361
    • Poirier, J.1
  • 54
    • 13244266993 scopus 로고    scopus 로고
    • Lipid transfer proteins and atherosclerosis
    • Stein O, Stein Y. Lipid transfer proteins and atherosclerosis. Atherosclerosis 2005;178:217-30.
    • (2005) Atherosclerosis , vol.178 , pp. 217-230
    • Stein, O.1    Stein, Y.2
  • 56
    • 8644289370 scopus 로고    scopus 로고
    • Lecitin:cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 Year follow-up
    • Ayyobi AF, McGladdery SH, Chan SJ, Mancini GB, Hill JS, Frohlich J. Lecitin:cholesterol acyltransferase (LCAT) deficiency and risk of vascular disease: 25 year follow-up. Atherosclerosis 2004;177:361-6.
    • (2004) Atherosclerosis , vol.177 , pp. 361-366
    • Ayyobi, A.F.1    McGladdery, S.H.2    Chan, S.J.3    Mancini, G.B.4    Hill, J.S.5    Frohlich, J.6
  • 57
    • 0026506761 scopus 로고
    • Two allelic mutations in the lecitin-cholesterol acyltransferase gene associated with the fish eye syndrome
    • Klein HG, Lohse P, Pritchard PH. Two allelic mutations in the lecitin-cholesterol acyltransferase gene associated with the fish eye syndrome. J Clin Invest 1992;89:499-506.
    • (1992) J Clin Invest , vol.89 , pp. 499-506
    • Klein, H.G.1    Lohse, P.2    Pritchard, P.H.3
  • 59
    • 24144480542 scopus 로고    scopus 로고
    • The molecular basis of lecitin: Cholestrol:acyltransferase deficiency syndromes. A comprehensive study of molecular and biochemical findings in 13 unrelated Italian families
    • e-objava prije tiskanja
    • Calabresi L, Pisciotta L, Constantin A, Frigerio I, Eberini I. The molecular basis of lecitin: cholestrol:acyltransferase deficiency syndromes. A comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. Arteriocler Thromb Vasc Biol 2005;30 (e-objava prije tiskanja)
    • (2005) Arteriocler Thromb Vasc Biol , vol.30
    • Calabresi, L.1    Pisciotta, L.2    Constantin, A.3    Frigerio, I.4    Eberini, I.5
  • 60
    • 1842638698 scopus 로고    scopus 로고
    • Cerebrotendinous xanthomatosis: Clinical course, genotypes and metabolic backgrounds
    • Mogadashian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med 2004;27:42-50.
    • (2004) Clin Invest Med , vol.27 , pp. 42-50
    • Mogadashian, M.H.1
  • 61
    • 8444244442 scopus 로고    scopus 로고
    • Normalisation of serum cholesterol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDLK apheresis
    • Dotti MT, Lutjohann D, von Bergman K, Federico A. Normalisation of serum cholesterol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDLK apheresis. Neurol Sci 2004;25:185-91.
    • (2004) Neurol Sci , vol.25 , pp. 185-191
    • Dotti, M.T.1    Lutjohann, D.2    Von Bergman, K.3    Federico, A.4
  • 62
    • 3242691713 scopus 로고    scopus 로고
    • Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy
    • Boldrini R, Devito R, Biselli R, Filocamo M, Bosman C. Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsy. Pathol Res Pract 2004;200:231-40.
    • (2004) Pathol Res Pract , vol.200 , pp. 231-240
    • Boldrini, R.1    Devito, R.2    Biselli, R.3    Filocamo, M.4    Bosman, C.5
  • 63
    • 12844278861 scopus 로고    scopus 로고
    • 3 Beta-hydroxysterol Delta 7-reductase and the Smith-Lemli-Opitz syndrome
    • Correa-Cerro LS, Portir FD. 3 beta-hydroxysterol Delta 7-reductase and the Smith-Lemli-Opitz syndrome. Mol Genet Metab 2005;84:112-26.
    • (2005) Mol Genet Metab , vol.84 , pp. 112-126
    • Correa-Cerro, L.S.1    Portir, F.D.2
  • 64
    • 85047684249 scopus 로고    scopus 로고
    • Human cholesterol-7 alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype
    • Pullinger CR, Eng C, Salen G, Shefer S, Batta AK. Human cholesterol-7 alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest 2002;110:109-17.
    • (2002) J Clin Invest , vol.110 , pp. 109-117
    • Pullinger, C.R.1    Eng, C.2    Salen, G.3    Shefer, S.4    Batta, A.K.5
  • 65
    • 2342570322 scopus 로고    scopus 로고
    • Primary hypercholesterolemia: Genetic causes and treatment of five monogenic disorders
    • Pullinger CR, Kane JP, Malloy MJ. Primary hypercholesterolemia: genetic causes and treatment of five monogenic disorders. Expert Rev Cardiovasc Ther 2003;1:107-19.
    • (2003) Expert Rev Cardiovasc Ther , vol.1 , pp. 107-119
    • Pullinger, C.R.1    Kane, J.P.2    Malloy, M.J.3
  • 66
    • 0036304873 scopus 로고    scopus 로고
    • Human CYP7A1 deficiency: Progress and enigmas
    • Beigueux A, Hofman AF, Young SC. Human CYP7A1 deficiency: progress and enigmas. J Clin Invest 2002;110:29-31.
    • (2002) J Clin Invest , vol.110 , pp. 29-31
    • Beigueux, A.1    Hofman, A.F.2    Young, S.C.3
  • 68
    • 10744228239 scopus 로고    scopus 로고
    • Familial HDL deficiency due to ABCA1 gene mutation with or without other genetic lipoprotein disorders
    • Pisciotta L, Hamilton-Craig I, Tarugi P, Bellocchio A. Familial HDL deficiency due to ABCA1 gene mutation with or without other genetic lipoprotein disorders. Atherosclerosis 2004;172:309-20.
    • (2004) Atherosclerosis , vol.172 , pp. 309-320
    • Pisciotta, L.1    Hamilton-Craig, I.2    Tarugi, P.3    Bellocchio, A.4
  • 70
    • 0027330899 scopus 로고
    • Familial hypoalphalipoproteinemia in premature coronary artery disease
    • Genest J, Bard J.M., Fruchart JC. Familial hypoalphalipoproteinemia in premature coronary artery disease. Arteroscler Thromb 1993;13:1728-37.
    • (1993) Arteroscler Thromb , vol.13 , pp. 1728-1737
    • Genest, J.1    Bard, J.M.2    Fruchart, J.C.3
  • 71
    • 0027137161 scopus 로고
    • Very low high-density lipoproteins without coronary atherosclerosis
    • Rader DJ, Ikewaki K, Duverger N. Very low high-density lipoproteins without coronary atherosclerosis. Lancet 1993;342:1455-8.
    • (1993) Lancet , vol.342 , pp. 1455-1458
    • Rader, D.J.1    Ikewaki, K.2    Duverger, N.3
  • 73
    • 4644265970 scopus 로고    scopus 로고
    • Molecular mechanisms of cholesteryl ester transfer protein deficiency in Japanese
    • Nagano M, Yanoshita S, Hirano K, Takano M, Maruyama T. Molecular mechanisms of cholesteryl ester transfer protein deficiency in Japanese. J Atheroscler Thromb 2004;11:110-21.
    • (2004) J Atheroscler Thromb , vol.11 , pp. 110-121
    • Nagano, M.1    Yanoshita, S.2    Hirano, K.3    Takano, M.4    Maruyama, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.