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Volumn 375, Issue 17, 2016, Pages 1628-1637

Child'parent familial hypercholesterolemia screening in primary care

Author keywords

[No Author keywords available]

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; CHOLESTEROL;

EID: 84992726174     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1602777     Document Type: Article
Times cited : (243)

References (27)
  • 1
    • 34748870952 scopus 로고    scopus 로고
    • Child-parent screening for familial hypercholesterolaemia: Screening strategy based on a meta-Analysis
    • Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-Analysis. BMJ 2007; 335: 599.
    • (2007) BMJ , vol.335 , pp. 599
    • Wald, D.S.1    Bestwick, J.P.2    Wald, N.J.3
  • 2
    • 0025944056 scopus 로고
    • Risk of fatal coronary heart disease in familial hypercholesterolaemia
    • Scientific Steering Committee on behalf of the Simon Broome Register Group
    • 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
  • 3
    • 3142717531 scopus 로고    scopus 로고
    • Efficacy and safety of statin therapy in children with familial hypercholesterolemia: A randomized controlled trial
    • Wiegman A, Hutten BA, de Groot E, et al. Efficacy and safety of statin therapy in children with familial hypercholesterolemia: a randomized controlled trial. JAMA 2004; 292: 331-7.
    • (2004) JAMA , vol.292 , pp. 331-337
    • Wiegman, A.1    Hutten, B.A.2    De Groot, E.3
  • 4
    • 84949321606 scopus 로고    scopus 로고
    • The agenda for familial hypercholesterolemia: A scientific statement from the American Heart Association
    • Gidding SS, Champagne MA, de Ferranti SD, et al. The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association. Circulation 2015; 132: 2167-92.
    • (2015) Circulation , vol.132 , pp. 2167-2192
    • Gidding, S.S.1    Champagne, M.A.2    De Ferranti, S.D.3
  • 6
    • 84925989503 scopus 로고    scopus 로고
    • Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement
    • Fouchier SW, Hutten BA, Defesche JC. Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement. J Med Genet 2015; 52: 80-4.
    • (2015) J Med Genet , vol.52 , pp. 80-84
    • Fouchier, S.W.1    Hutten, B.A.2    Defesche, J.C.3
  • 7
    • 84864579096 scopus 로고    scopus 로고
    • Discriminative ability of ldl-cholesterol to identify patients with familial hypercholesterolemia: A crosssectional study in 26,406 individuals tested for genetic fh
    • Huijgen R, Hutten BA, Kindt I, Vissers MN, Kastelein JJ. Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a crosssectional study in 26,406 individuals tested for genetic FH. Circ Cardiovasc Genet 2012; 5: 354-9.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 354-359
    • Huijgen, R.1    Hutten, B.A.2    Kindt, I.3    Vissers, M.N.4    Kastelein, J.J.5
  • 8
    • 0035864633 scopus 로고    scopus 로고
    • Fh-souassi: A founder frameshift mutation in exon 10 of the ldl-receptor gene, associated with a mild phenotype in tunisian families
    • Slimane MN, Lestavel S, Sun X-M, et al. Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families. Atherosclerosis 2001; 154: 557-65.
    • (2001) Atherosclerosis , vol.154 , pp. 557-565
    • Slimane, M.N.1    Lestavel, S.2    Sun, X.-M.3
  • 9
    • 77950458946 scopus 로고    scopus 로고
    • Moderate phenotypic expression of familial hypercholesterolemia in Tunisia
    • Jelassi A, Slimani A, Jguirim I, et al. Moderate phenotypic expression of familial hypercholesterolemia in Tunisia. Clin Chim Acta 2010; 411: 735-8.
    • (2010) Clin Chim Acta , vol.411 , pp. 735-738
    • Jelassi, A.1    Slimani, A.2    Jguirim, I.3
  • 10
    • 84890461947 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus statement of the european atherosclerosis society
    • 3478-90a
    • Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34: 3478-90a.
    • (2013) Eur Heart J , vol.34
    • Nordestgaard, B.G.1    Chapman, M.J.2    Humphries, S.E.3
  • 11
    • 80054744511 scopus 로고    scopus 로고
    • Child-parent screening for familial hypercholesterolemia
    • Wald DS, Kasturiratne A, Godoy A, et al. Child-parent screening for familial hypercholesterolemia. J Pediatr 2011; 159: 865-7.
    • (2011) J Pediatr , vol.159 , pp. 865-867
    • Wald, D.S.1    Kasturiratne, A.2    Godoy, A.3
  • 12
    • 0015348189 scopus 로고
    • Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge
    • Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without 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    Fredrickson, D.S.3
  • 13
    • 0037704145 scopus 로고    scopus 로고
    • First and second trimester antenatal screening for down's syndrome: The results of the serum, urine and ultrasound screening study (suruss
    • Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 2003; 10: 56-104.
    • (2003) J Med Screen , vol.10 , pp. 56-104
    • Wald, N.J.1    Rodeck, C.2    Hackshaw, A.K.3    Walters, J.4    Chitty, L.5    Mackinson, A.M.6
  • 14
    • 44849108492 scopus 로고    scopus 로고
    • Update and analysis of the university college london low density lipoprotein receptor familial hypercholesterolemia database
    • Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet 2008; 72: 485-98.
    • (2008) Ann Hum Genet , vol.72 , pp. 485-498
    • Leigh, S.E.1    Foster, A.H.2    Whittall, R.A.3    Hubbart, C.S.4    Humphries, S.E.5
  • 15
    • 84992758395 scopus 로고    scopus 로고
    • Quickgene series: Rapid and simple system for DNA/RNA extraction which uses polymer porous membrane
    • Mori T, Iwaki Y, Hando R, et al. QuickGene Series: Rapid and simple system for DNA/RNA extraction which uses polymer porous membrane. Japan J Clin Chem 2007; 36: 33-9.
    • (2007) Japan J Clin Chem , vol.36 , pp. 33-39
    • Mori, T.1    Iwaki, Y.2    Hando, R.3
  • 16
    • 84868628467 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in the danish general population: Prevalence, coronary artery disease, and cholesterol-lowering medication
    • Benn M, Watts GF, Tybjaerg-Hansen A, Nordestgaard BG. Familial hypercholesterolemia in the Danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. J Clin Endocrinol Metab 2012; 97: 3956-64.
    • (2012) J Clin Endocrinol Metab , vol.97 , pp. 3956-3964
    • Benn, M.1    Watts, G.F.2    Tybjaerg-Hansen, A.3    Nordestgaard, B.G.4
  • 17
    • 0028177458 scopus 로고
    • Familial hypercholesterolemia in China: Identification of mutations in the ldl-receptor gene that result in a receptor-negative phenotype
    • Sun X-M, Patel DD, Webb JC, et al. Familial hypercholesterolemia in China: identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype. Arterioscler Thromb 1994; 14: 85-94.
    • (1994) Arterioscler Thromb , vol.14 , pp. 85-94
    • Sun, X.-M.1    Patel, D.D.2    Webb, J.C.3
  • 18
    • 84941107600 scopus 로고    scopus 로고
    • Universal screening for familial hypercholesterolemia in children
    • Klancar G, Grošelj U, Kovac J, et al. Universal screening for familial hypercholesterolemia in children. J Am Coll Cardiol 2015; 66: 1250-7.
    • (2015) J Am Coll Cardiol , vol.66 , pp. 1250-1257
    • Klancar, G.1    Grošelj, U.2    Kovac, J.3
  • 19
    • 18544398196 scopus 로고    scopus 로고
    • Low density lipoprotein receptor (ldlr) gene mutations in canadian subjects with familial hypercholesterolemia, but not of French descent
    • Wang J, Huff E, Janecka L, Hegele RA. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. Hum Mutat 2001; 18: 359.
    • (2001) Hum Mutat , vol.18 , pp. 359
    • Wang, J.1    Huff, E.2    Janecka, L.3    Hegele, R.A.4
  • 20
    • 34249726189 scopus 로고    scopus 로고
    • Multiplex arms analysis to detect 13 common mutations in familial hypercholesterolaemia
    • Taylor A, Tabrah S, Wang D, et al. Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia. Clin Genet 2007; 71: 561-8.
    • (2007) Clin Genet , vol.71 , pp. 561-568
    • Taylor, A.1    Tabrah, S.2    Wang, D.3
  • 21
    • 0030836649 scopus 로고    scopus 로고
    • Spectrum of ldl receptor gene mutations in heterozygous familial hypercholesterolemia
    • Day INM, Whittall RA, O'Dell SD, et al. Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia. Hum Mutat 1997; 10: 116-27.
    • (1997) Hum Mutat , vol.10 , pp. 116-127
    • Day, I.N.M.1    Whittall, R.A.2    O'Dell, S.D.3
  • 22
    • 37249029830 scopus 로고    scopus 로고
    • Genetic heterogeneity of autosomal dominant hypercholesterolemia
    • Varret M, Abifadel M, Rabés JP, Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 2008; 73: 1-13.
    • (2008) Clin Genet , vol.73 , pp. 1-13
    • Varret, M.1    Abifadel, M.2    Rabés, J.P.3    Boileau, C.4
  • 23
    • 79956267846 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients: Clinical guidance from the national lipid association expert panel on familial hypercholesterolemia
    • Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011; 5: 133-40.
    • (2011) J Clin Lipidol , vol.5 , pp. 133-140
    • Goldberg, A.C.1    Hopkins, P.N.2    Toth, P.P.3
  • 24
    • 0033547616 scopus 로고    scopus 로고
    • When can a risk factor be used as a worthwhile screening test?
    • Wald NJ, Hackshaw AK, Frost CD. When can a risk factor be used as a worthwhile screening test? BMJ 1999; 319: 1562-5.
    • (1999) BMJ , vol.319 , pp. 1562-1565
    • Wald, N.J.1    Hackshaw, A.K.2    Frost, C.D.3
  • 25
    • 79953718190 scopus 로고    scopus 로고
    • Brca1 and brca2 hereditary breast and ovarian cancer
    • In Pagon RA, Adam MP, Ardinger HH, et al., eds. Seattle: University of Washington, September 4, updated September 26, 2013
    • Petrucelli N, Daly MB, Feldman GL. BRCA1 and BRCA2 hereditary breast and ovarian cancer. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews. Seattle: University of Washington, September 4, 1998 (updated September 26, 2013).
    • (1998) GeneReviews
    • Petrucelli, N.1    Daly, M.B.2    Feldman, G.L.3
  • 26
    • 84945482783 scopus 로고    scopus 로고
    • Performance of antenatal reflex DNA screening for down's syndrome
    • Wald NJ, Bestwick JP. Performance of antenatal reflex DNA screening for Down's syndrome. J Med Screen 2015; 22: 168-74.
    • (2015) J Med Screen , vol.22 , pp. 168-174
    • Wald, N.J.1    Bestwick, J.P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.