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Volumn 17, Issue 5, 1997, Pages 826-833

Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia

Author keywords

children; familial defective apoB 100; familial hypercholesterolemia

Indexed keywords

APOLIPOPROTEIN A1; APOLIPOPROTEIN B100; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

EID: 0030948955     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.17.5.826     Document Type: Article
Times cited : (31)

References (31)
  • 1
    • 0000710395 scopus 로고
    • Familial hypercholesterolemia
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Toronto, Ontario, Canada: McGraw-Hill Publishing Co
    • Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 7th edition. Toronto, Ontario, Canada: McGraw-Hill Publishing Co; 1995:1981-2030.
    • (1995) The Metabolic Basis of Inherited Disease. 7th edition , pp. 1981-2030
    • Goldstein, J.L.1    Brown, M.S.2
  • 5
    • 0028898785 scopus 로고
    • Mutation screening of codon 3500 region of the apolipoprotein B gene by denaturing gradient-gel electrophoresis
    • Nissen H, Hansen PS, Faergeman OS, Hørder M. Mutation screening of codon 3500 region of the apolipoprotein B gene by denaturing gradient-gel electrophoresis. Clin Chem. 1995;41:419-423.
    • (1995) Clin Chem , vol.41 , pp. 419-423
    • Nissen, H.1    Hansen, P.S.2    Faergeman, O.S.3    Hørder, M.4
  • 8
    • 0029094386 scopus 로고
    • Differences in phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
    • Miserez AR, Keller U. Differences in phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 1995;15:1719-1729.
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1719-1729
    • Miserez, A.R.1    Keller, U.2
  • 9
    • 0022981186 scopus 로고
    • In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia
    • Vega GL, Grundy SM. In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. J Clin Invest. 1986;86:1410-1414.
    • (1986) J Clin Invest , vol.86 , pp. 1410-1414
    • Vega, G.L.1    Grundy, S.M.2
  • 10
    • 0027331369 scopus 로고
    • Accumulation of "small dense" low density lipoprotein (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogeneous interaction of LDL subfractions with the LDL receptor
    • März W, Baumstark MW, Scharnagl H, Ruzicka V, Buxbaum S, Herwig J, Pohl T, Russ A, Schaaf L, Berg A, Böhles H-J, Usadel KH, Groß W. Accumulation of "small dense" low density lipoprotein (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogeneous interaction of LDL subfractions with the LDL receptor. J Clin Invest. 1993;92:2922-2933.
    • (1993) J Clin Invest , vol.92 , pp. 2922-2933
    • März, W.1    Baumstark, M.W.2    Scharnagl, H.3    Ruzicka, V.4    Buxbaum, S.5    Herwig, J.6    Pohl, T.7    Russ, A.8    Schaaf, L.9    Berg, A.10    Böhles, H.-J.11    Usadel, K.H.12    Groß, W.13
  • 12
    • 0026779207 scopus 로고
    • Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolemia and premature coronary artery disease
    • Tybjaerg-Hansen A, Humphries SE. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis. 1992;96:91-107.
    • (1992) Atherosclerosis , vol.96 , pp. 91-107
    • Tybjaerg-Hansen, A.1    Humphries, S.E.2
  • 13
    • 0027437258 scopus 로고
    • Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia
    • Defesche JC, Pricker KL, Hayden MR, Van der Ende B, Kastelein JJP. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. Arch Intern Med. 1993;153:2349-2356.
    • (1993) Arch Intern Med , vol.153 , pp. 2349-2356
    • Defesche, J.C.1    Pricker, K.L.2    Hayden, M.R.3    Van Der Ende, B.4    Kastelein, J.J.P.5
  • 14
    • 33746195805 scopus 로고
    • Enzymatische Bestimming der Gesammtcholesterins in serum
    • Rochlau P, Bernt E, Gruber W. Enzymatische Bestimming der Gesammtcholesterins in serum. J Clin Biochem. 1974;12:403-407.
    • (1974) J Clin Biochem , vol.12 , pp. 403-407
    • Rochlau, P.1    Bernt, E.2    Gruber, W.3
  • 16
    • 0017350190 scopus 로고
    • Cholesterol determination in high density lipoproteins separated by three different methods
    • Lopes-Virella MF, Stone J, Ellis S, Goldwell JA. Cholesterol determination in high density lipoproteins separated by three different methods. Clin Chem. 1975;23:882-884.
    • (1975) Clin Chem , vol.23 , pp. 882-884
    • Lopes-Virella, M.F.1    Stone, J.2    Ellis, S.3    Goldwell, J.A.4
  • 17
    • 0015348189 scopus 로고
    • Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without the use of the preparative ultracentrifuge
    • Friedewald WT, Levy RI, Frederickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without the use of the preparative ultracentrifuge. Clin Chem. 1972;18:499-502.
    • (1972) Clin Chem , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.I.2    Frederickson, D.S.3
  • 18
    • 0025934902 scopus 로고
    • International federation of clinical chemistry standardization project for measurement of apolipoproteins A-1 and B
    • Marcovina S, Albers JJ, Kennedy H, Mei JV, Henderson LO, Hannon WH. International federation of clinical chemistry standardization project for measurement of apolipoproteins A-1 and B. Clin Chem. 1991;37:1676-1682.
    • (1991) Clin Chem , vol.37 , pp. 1676-1682
    • Marcovina, S.1    Albers, J.J.2    Kennedy, H.3    Mei, J.V.4    Henderson, L.O.5    Hannon, W.H.6
  • 19
    • 0025035692 scopus 로고
    • Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17
    • Defesche JC, Hoogendijk JE, de Visser M, de Visser O, Bolhuis PA. Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17. Neurology. 1990;40:1450-1453.
    • (1990) Neurology , vol.40 , pp. 1450-1453
    • Defesche, J.C.1    Hoogendijk, J.E.2    De Visser, M.3    De Visser, O.4    Bolhuis, P.A.5
  • 21
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat. 1992;1:445-446.
    • (1992) Hum Mutat , vol.1 , pp. 445-446
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 23
    • 0028901081 scopus 로고
    • Identification of mutations in the LDL-receptor by denaturing gradient gel electrophoresis
    • Lombardi P, Sijbrands E, Van de Giessen K, Smelt A, Kastelein JJP. Identification of mutations in the LDL-receptor by denaturing gradient gel electrophoresis. J Lipid Res. 1995;36:860-867.
    • (1995) J Lipid Res , vol.36 , pp. 860-867
    • Lombardi, P.1    Sijbrands, E.2    Van De Giessen, K.3    Smelt, A.4    Kastelein, J.J.P.5
  • 24
    • 0000492166 scopus 로고
    • Homozygosity for familial defective apolipoprotein B-100 (FDB) is associated with lower plasma cholesterol concentrations than homozygosity for familial hypercholesterolemia (FH)
    • Abstract
    • Funke H, Rust S, Seedorf U, Brennhausen B, Chirazi A, Motti C, Assmann G. Homozygosity for familial defective apolipoprotein B-100 (FDB) is associated with lower plasma cholesterol concentrations than homozygosity for familial hypercholesterolemia (FH). Circulation. 1992;86(suppl I):I-691. Abstract.
    • (1992) Circulation , vol.86 , Issue.1 SUPPL.
    • Funke, H.1    Rust, S.2    Seedorf, U.3    Brennhausen, B.4    Chirazi, A.5    Motti, C.6    Assmann, G.7
  • 25
    • 0026091744 scopus 로고
    • A prospective study of cholesterol, apolipoproteins, and the risk of myocardial infarction
    • Stampfer MJ, Sacks FM, Salvini S, Willet WC, Hennekens CH. A prospective study of cholesterol, apolipoproteins, and the risk of myocardial infarction. N Engl J Med. 1991;325:373-381.
    • (1991) N Engl J Med , vol.325 , pp. 373-381
    • Stampfer, M.J.1    Sacks, F.M.2    Salvini, S.3    Willet, W.C.4    Hennekens, C.H.5
  • 26
    • 0029146594 scopus 로고
    • Familial hypercholesterolemia: Molecular, biochemical, and clinical characterization of a French-Canadian pediatric population
    • Assouline L, Levy E, Feoli-Fonseca JC, Godbout C, Lambert M. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population. Pediatrics. 1995;96:239-246.
    • (1995) Pediatrics , vol.96 , pp. 239-246
    • Assouline, L.1    Levy, E.2    Feoli-Fonseca, J.C.3    Godbout, C.4    Lambert, M.5
  • 28
    • 0026031715 scopus 로고
    • Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia
    • Hill JS, Hayden MR, Frohlich J, Pritchard PH. Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia. Arterioscler Thromb. 1991;11:290-297.
    • (1991) Arterioscler Thromb , vol.11 , pp. 290-297
    • Hill, J.S.1    Hayden, M.R.2    Frohlich, J.3    Pritchard, P.H.4
  • 29
    • 0029142927 scopus 로고
    • Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway
    • Tonstad S, Leren TP, Siverton M, Ose L. Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway. Arterioscler Thromb Vasc Biol. 1995;15:1009-1014.
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1009-1014
    • Tonstad, S.1    Leren, T.P.2    Siverton, M.3    Ose, L.4
  • 30
    • 0022412670 scopus 로고
    • Cholesterol, high density lipoprotein cholesterol and triglycerides during puberty: The Oslo Youth Study
    • Tell GS, Mittelmark MB, Vellar OD. Cholesterol, high density lipoprotein cholesterol and triglycerides during puberty: the Oslo Youth Study. Am J Epidemiol. 1985;122:750-761.
    • (1985) Am J Epidemiol , vol.122 , pp. 750-761
    • Tell, G.S.1    Mittelmark, M.B.2    Vellar, O.D.3
  • 31
    • 0027230692 scopus 로고
    • Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apoB-100
    • Rubinsztein DC, Raal FJ, Seftel HC, Pilcher G, Coetzee GA, van der Westhuyzen DR. Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apoB-100. Arterioscler Thromb. 1993;13:1076-1081.
    • (1993) Arterioscler Thromb , vol.13 , pp. 1076-1081
    • Rubinsztein, D.C.1    Raal, F.J.2    Seftel, H.C.3    Pilcher, G.4    Coetzee, G.A.5    Van Der Westhuyzen, D.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.