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Volumn 53, Issue 1, 2011, Pages 11-18

Familial hypercholesterolaemia

Author keywords

Apolipoprotein B100; Familial hypercholesterolaemia; Low density lipoprotein receptor; PCSK9; Tendon xanthomata

Indexed keywords

APOLIPOPROTEIN B100; ATORVASTATIN; COLESTYRAMINE; DNA; EZETIMIBE; FIBRIC ACID DERIVATIVE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; LOW DENSITY LIPOPROTEIN RECEPTOR; PROPROTEIN CONVERTASE SUBTILISIN KEXIN TYPE 9; ROSUVASTATIN; SERINE PROTEINASE; UNCLASSIFIED DRUG;

EID: 79952938270     PISSN: 20786190     EISSN: 20786204     Source Type: Journal    
DOI: 10.1080/20786204.2011.10874054     Document Type: Article
Times cited : (5)

References (13)
  • 1
    • 0029811657 scopus 로고    scopus 로고
    • Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations
    • Steyn K, Goldberg YP, Kotze MJ, et al. Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Hum Genet 1996;98(4):479-84.
    • (1996) Hum Genet , vol.98 , Issue.4 , pp. 479-484
    • Steyn, K.1    Goldberg, Y.P.2    Kotze, M.J.3
  • 2
    • 51249096285 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia: Summary of NICE guidance
    • Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ 2008;337:a1095.
    • (2008) BMJ , vol.337
    • Wierzbicki, A.S.1    Humphries, S.E.2    Minhas, R.3
  • 4
    • 0025944056 scopus 로고
    • Scientific Steering Committee on behalf of the Simon Broome Register Group
    • Risk of fatal coronary heart disease in familial hypercholesterolaemia
    • Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991;303(6807):893-6.
    • (1991) BMJ , vol.303 , Issue.6807 , pp. 893-896
  • 5
    • 0022549920 scopus 로고
    • A receptor-mediated pathway for cholesterol homeostasis
    • Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986;232(4746):34-47.
    • (1986) Science , vol.232 , Issue.4746 , pp. 34-47
    • Brown, M.S.1    Goldstein, J.L.2
  • 6
    • 0031259738 scopus 로고    scopus 로고
    • Estimation of the age of the ancestral arginine 3500 --> glutamine mutation in human apoB-100
    • Myant NB, Forbes SA, Day IN, Gallagher J. Estimation of the age of the ancestral arginine 3500 --> glutamine mutation in human apoB-100. Genomics 1997;45(1):78-87.
    • (1997) Genomics , vol.45 , Issue.1 , pp. 78-87
    • Myant, N.B.1    Forbes, S.A.2    Day, I.N.3    Gallagher, J.4
  • 7
    • 63749121093 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease
    • Abifadel M, Rabes JP, Devillers M, et al. Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat 2009;30(4):520-9.
    • (2009) Hum Mutat , vol.30 , Issue.4 , pp. 520-529
    • Abifadel, M.1    Rabes, J.P.2    Devillers, M.3
  • 8
    • 33645103550 scopus 로고    scopus 로고
    • Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    • Cohen JC, Boerwinkle E, Mosley TH, Jr., Hobbs HH. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med 2006;354(12):1264-72.
    • (2006) N Engl J Med , vol.354 , Issue.12 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley Jr., T.H.3    Hobbs, H.H.4
  • 9
    • 0037045847 scopus 로고    scopus 로고
    • Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: A clinical and molecular genetic analysis
    • Arca M, Zuliani G, Wilund K, et al. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet 2002;359(9309):841-7.
    • (2002) Lancet , vol.359 , Issue.9309 , pp. 841-847
    • Arca, M.1    Zuliani, G.2    Wilund, K.3
  • 10
    • 0034094175 scopus 로고    scopus 로고
    • Familial defective apolipoprotein B-100: A lesson from homozygous and heterozygous patients
    • Ceska R, Vrablik M, Horinek A. Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients. Physiol Res 2000;49 Suppl 1:S125-S130.
    • (2000) Physiol Res , vol.49 , Issue.SUPPL. 1
    • Ceska, R.1    Vrablik, M.2    Horinek, A.3
  • 11
    • 33748661502 scopus 로고    scopus 로고
    • Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote
    • Zhao Z, Tuakli-Wosornu Y, Lagace TA, et al. Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote. Am J Hum Genet 2006;79(3):514-23.
    • (2006) Am J Hum Genet , vol.79 , Issue.3 , pp. 514-523
    • Zhao, Z.1    Tuakli-Wosornu, Y.2    Lagace, T.A.3
  • 13
    • 0345109256 scopus 로고    scopus 로고
    • Gruppo Italiano per lo Studio della Sopravvivenza nell'Infarto miocardico
    • Dietary supplementation with n-3 polyunsaturated fatty acids and vitamin E after myocardial infarction: results of the GISSIPrevenzione trial
    • Dietary supplementation with n-3 polyunsaturated fatty acids and vitamin E after myocardial infarction: results of the GISSIPrevenzione trial. Gruppo Italiano per lo Studio della Sopravvivenza nell'Infarto miocardico. Lancet 1999;354(9177):447-55.
    • (1999) Lancet , vol.354 , Issue.9177 , pp. 447-455


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.