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家族性高胆固醇血症1例临床报告

Clinical report on a familial hypercholesterolemia case
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作者 向伟 陈桂芳 吴明 赵水平 廖锋 冯小伟
机构地区 海南省人民医院儿科 中南大学湘雅二医院心血管内科
出处 《中国热带医学》 CAS 2007年第4期579-581,594,共4页 China Tropical Medicine
关键词 家族性 高胆固醇血症 心血管疾病
分类号 R589.2 [医药卫生—内分泌]
  • 相关文献

参考文献17

  • 1罔田知雄.家族性高胆固醇血症[J].日小儿内科,2003,35:424-424.
  • 2王绿娅,蔺洁,刘舒,陈保生.家族性高胆固醇血症样表型遗传异质性的分子基础[J].Acta Genetica Sinica,2005,32(7):770-777. 被引量：14
  • 3Canizales-Quinteros S.A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia[J].Hum Genet,2005,116 (122):114～120.
  • 4Marques da Silva P.Arterial compliance:a tool in the evaluation of vascular disease in familial hypercholesterolemia[J].Atherosclerosis,2000,148(2):437～440.
  • 5Alan S,Ulgen MS,Ozturk O,et al.Relation between coronaryartery disease,risk factors and intima-media thickness of carotid artery,arterial distensibility,and stiffness index[J].Angiology,2003,54:216～217.
  • 6勇强,孙慧,李治安,王绿娅,蔺洁.三例家族性高胆固醇血症患者动脉血管超声检查随访[J].中国医师杂志,2005,7(2):200-202. 被引量：1
  • 7Hattori H.A flow cytometric procedure to measure functional LDL receptor for diagnosis of familial hypercholesterolemia.In Kostner GM.Atherosclerosis:Risk Factors[M].Monduz zi Edltore 5.P.A.-Medimond.Italy.Diagnosis,and Treatment,2002:357～363.
  • 8Hopkins PN,Stephenson S,Wu LL,et al.Evaluation of coronary risk factors in patients with heterozygous familial hypercholesterolemia[J].Am J Cardiol,2001,87(5):547～553.
  • 9Umans-Eckenhausen MA,Defesche JC,Sijbrands EJ,et al.Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands[J].Lancet,2001,357(9251):165～168.
  • 10Marks D,Wonderling D,Thorogood M,et al.Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia:a systematic review and cost-effectiveness analysis[J].Health Technol Assess,2000,4(29):1～123.

二级参考文献78

  • 1盛净.家族性高胆固醇血症的病例检测和诊断[J].国外医学（心血管疾病分册）,1994,21(3):150-151. 被引量：2
  • 2蔡海江.我国家族性高胆固醇血症临床特点,诊断及治疗的研究进展[J].美国医学会杂志（中文版）,1994,13(5):265-266. 被引量：7
  • 3范乐明.家族性高胆固醇血症临床研究,问荷降脂片对纯合子家族性高胆固醇血症治疗作用的初步观察.中国循环杂志,1997,2:231-231.
  • 4Marks D, Thorogood M, Neil HA, et al.A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia[J]. Atherosclerosis,2003,168(1):1-14
  • 5Van Gaal LF, Peeters AV, De Black CE , et al.Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics[J]. Mol Cell Probes,2001,15(6):329-336
  • 6Dirisamer A,Hachemian N, Bucek RA, et al.The effect of low-dose simvastatin in children with familial hypercholesterolaemia: a 1-year observation[J]. Eur J Pediatr,2003,162(6):421-425
  • 7Nolting PR, de Groot E, Zwinderman AH, et al. Regression of carotid and femoral artery intima-media thickness in familial hypercholesterolemia: treatment with simvastatin[J]. Arch Intern Med,2003,11-25;163(15):1837-1841
  • 8Wendelhag I, Wiklund O, Wikstrand J. On quantifying plaque size and intima-media thickness in carotid and femoral arteries. Comments on results from a prospective ultrasound study in patients with familial hypercholesterolemia[J]. Arterioscler Thromb Vasc Biol,1996,16(7):843-850
  • 9Wittekoek ME, de Groot E, Prins MH, et al. Differences in intima-media thickness in the carotid and femoral arteries in familial hypercholesterolemic heterozygotes with and without clinical manifestations of cardiovascular disease[J]. Atherosclerosis,1999,146(2):271-279
  • 10Tonstad S, Joakimsen Ose L, Bonaa KH, et al. Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects[J]. Eur J Clin Invest,1998,28(12):971-979

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中国热带医学
2007年 第4期

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