메뉴 건너뛰기




Volumn 177, Issue 1, 2014, Pages 188-191

Seven-year clinical follow-up of a Chinese homozygous familial hypercholesterolemia child with premature xanthomas and coronary artery disease - A need for early diagnosis and aggressive treatment

Author keywords

Cardiovascular; Diagnosis; Familial hypercholesterolemia; Follow up

Indexed keywords

ANTITHROMBOCYTIC AGENT; CHOLESTEROL; COMPLEMENTARY DNA; EZETIMIBE; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; HYPOCHOLESTEROLEMIC AGENT; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PROBUCOL; SIMVASTATIN; TRIACYLGLYCEROL;

EID: 84909952476     PISSN: 01675273     EISSN: 18741754     Source Type: Journal    
DOI: 10.1016/j.ijcard.2014.09.058     Document Type: Article
Times cited : (16)

References (19)
  • 1
    • 84893647246 scopus 로고    scopus 로고
    • Integrated guidance on the care of familial hypercholesterolaemia from the international FH foundation
    • G.F. Watts, S. Gidding, and A.S. Wierzbicki Integrated guidance on the care of familial hypercholesterolaemia from the international FH foundation Int J Cardiol 171 2014 309 325
    • (2014) Int J Cardiol , vol.171 , pp. 309-325
    • Watts, G.F.1    Gidding, S.2    Wierzbicki, A.S.3
  • 2
    • 84906716305 scopus 로고    scopus 로고
    • Homozygous familial hypercholesterolaemia: New insights and guidance for clinicians to improve detection and clinical management
    • A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
    • M. Cuchel, E. Bruckert, and H.N. Ginsberg Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society Eur Heart J 35 2014 2146 2157
    • (2014) Eur Heart J , vol.35 , pp. 2146-2157
    • Cuchel, M.1    Bruckert, E.2    Ginsberg, H.N.3
  • 3
    • 79958846829 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: Epidemiology, Neolithic origins and modern geographic distribution
    • K.E. Liyanage, J.R. Burnett, A.J. Hooper, and F.M. van Bockxmeer Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution Crit Rev Clin Lab Sci 48 2011 1 18
    • (2011) Crit Rev Clin Lab Sci , vol.48 , pp. 1-18
    • Liyanage, K.E.1    Burnett, J.R.2    Hooper, A.J.3    Van Bockxmeer, F.M.4
  • 4
    • 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
    • A.C. Goldberg, P.N. Hopkins, and P.P. Toth 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 5 2011 S1 S8
    • (2011) J Clin Lipidol , vol.5 , pp. 1-S8
    • Goldberg, A.C.1    Hopkins, P.N.2    Toth, P.P.3
  • 5
    • 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
    • B.G. Nordestgaard, M.J. Chapman, and S.E. Humphries 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 34 2013 3478 3490
    • (2013) Eur Heart J , vol.34 , pp. 3478-3490
    • Nordestgaard, B.G.1    Chapman, M.J.2    Humphries, S.E.3
  • 6
    • 84899913069 scopus 로고    scopus 로고
    • Functional characterization of two LDLR gene mutations in two Chinese patients with Familial hypercholesterolemia
    • H.H. Wang, S.Y. Xu, and S.W. Yang Functional characterization of two LDLR gene mutations in two Chinese patients with Familial hypercholesterolemia PLoS One 9 3 2014 e92703
    • (2014) PLoS One , vol.9 , Issue.3 , pp. 92703
    • Wang, H.H.1    Xu, S.Y.2    Yang, S.W.3
  • 7
    • 67349260690 scopus 로고    scopus 로고
    • Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients
    • L. Wang, J. Lin, and S. Liu Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients Nutr Metab Cardiovasc Dis 19 2009 391 400
    • (2009) Nutr Metab Cardiovasc Dis , vol.19 , pp. 391-400
    • Wang, L.1    Lin, J.2    Liu, S.3
  • 9
    • 84899564433 scopus 로고    scopus 로고
    • Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia
    • W.F. Wu, L.Y. Sun, X.D. Pan, S.W. Yang, and L.Y. Wang Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia PloS One 9 2014 e94697
    • (2014) PloS One , vol.9 , pp. 94697
    • Wu, W.F.1    Sun, L.Y.2    Pan, X.D.3    Yang, S.W.4    Wang, L.Y.5
  • 10
    • 1042306432 scopus 로고    scopus 로고
    • Application of touch-down PCR technique in the research of detecting gene point mutation in LDL-R gene
    • L.Y. Wang, S.C. Cao, and J. Lin Application of touch-down PCR technique in the research of detecting gene point mutation in LDL-R gene Chin J Lab Med 26 2003 403 406
    • (2003) Chin J Lab Med , vol.26 , pp. 403-406
    • Wang, L.Y.1    Cao, S.C.2    Lin, J.3
  • 11
    • 0031838215 scopus 로고    scopus 로고
    • Phenotypic variation in heterozygous familial hypercholesterolemia: A comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada
    • S.N. Pimstone, X.-M. Sun, and C. du Souich Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada Arterioscler Thromb Vasc Biol 18 1998 309 315
    • (1998) Arterioscler Thromb Vasc Biol , vol.18 , pp. 309-315
    • Pimstone, S.N.1    Sun, X.-M.2    Du Souich, C.3
  • 12
    • 84880919889 scopus 로고    scopus 로고
    • Heterozygous familial hypercholesterolemia in Hong Kong Chinese. Study of 252 cases
    • M. Hu, W. Lan, and C.W. Lam Heterozygous familial hypercholesterolemia in Hong Kong Chinese. Study of 252 cases Int J Cardiol 16 2013 762 767
    • (2013) Int J Cardiol , vol.16 , pp. 762-767
    • Hu, M.1    Lan, W.2    Lam, C.W.3
  • 14
    • 84893842871 scopus 로고    scopus 로고
    • Carotid intima-media thickness in children with familial hypercholesterolemia
    • D.M. Kusters, A. Wiegman, J.J. Kastelein, and B.A. Hutten Carotid intima-media thickness in children with familial hypercholesterolemia Circ Res 114 2014 307 310
    • (2014) Circ Res , vol.114 , pp. 307-310
    • Kusters, D.M.1    Wiegman, A.2    Kastelein, J.J.3    Hutten, B.A.4
  • 15
    • 79959344590 scopus 로고    scopus 로고
    • CT coronary plaque burden in asymptomatic patients with familial hypercholesterolaemia
    • L.A. Neefjes, G.J. Ten Kate, and A. Rossi CT coronary plaque burden in asymptomatic patients with familial hypercholesterolaemia Heart 97 2011 1151 1157
    • (2011) Heart , vol.97 , pp. 1151-1157
    • Neefjes, L.A.1    Ten Kate, G.J.2    Rossi, A.3
  • 16
    • 84909975519 scopus 로고    scopus 로고
    • Cardiovascular ultrasound investigation in familial hypercholesterolemia patients
    • L. Zhi'an, Y. Ya, and Y. Qiang Cardiovascular ultrasound investigation in familial hypercholesterolemia patients Chin J Ultrasound Med 23 2007 839 843
    • (2007) Chin J Ultrasound Med , vol.23 , pp. 839-843
    • Zhi'An, L.1    Ya, Y.2    Qiang, Y.3
  • 17
    • 77956648754 scopus 로고    scopus 로고
    • Evaluation of coronary flow velocity reserve in homozygous familial hypercholesterolemia by transthoracic Doppler echocardiography and dual-source computed tomography
    • Y. Yang, X. Zhang, and R. Li Evaluation of coronary flow velocity reserve in homozygous familial hypercholesterolemia by transthoracic Doppler echocardiography and dual-source computed tomography Ultrasound Med Biol 36 2010 1756 1761
    • (2010) Ultrasound Med Biol , vol.36 , pp. 1756-1761
    • Yang, Y.1    Zhang, X.2    Li, R.3
  • 18
    • 84871945617 scopus 로고    scopus 로고
    • Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: A single-arm, open-label, phase 3 study
    • M. Cuchel, E.A. Meagher, and Theron H. du Toit Efficacy and safety of a microsomal triglyceride transfer protein inhibitor in patients with homozygous familial hypercholesterolaemia: a single-arm, open-label, phase 3 study Lancet 381 2013 40 46
    • (2013) Lancet , vol.381 , pp. 40-46
    • Cuchel, M.1    Meagher, E.A.2    Du Toit, T.H.3
  • 19
    • 84888090979 scopus 로고    scopus 로고
    • Mipomersen, an apolipoprotein B synthesis inhibitor, reduces atherogenic lipoproteins in patients with severe hypercholesterolemia at high cardiovascular risk: A randomized, double-blind, placebo-controlled trial
    • G.S. Thomas, W.C. Cromwell, and S. Ali Mipomersen, an apolipoprotein B synthesis inhibitor, reduces atherogenic lipoproteins in patients with severe hypercholesterolemia at high cardiovascular risk: a randomized, double-blind, placebo-controlled trial J Am Coll Cardiol 62 2013 2178 2184
    • (2013) J Am Coll Cardiol , vol.62 , pp. 2178-2184
    • Thomas, G.S.1    Cromwell, W.C.2    Ali, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.