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家族性高胆固醇血症黄瘤病并发心脏瓣膜病变1例报告 被引量:2

A case of familial hypercholesterolemia with Xanthomatosis complicating cardiac valve disease
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摘要 1病历资料 患者男,19岁。以“双肘、臀部、膝关节伸侧、踝部散在皮疹14年,胸闷月余”入院。患者5岁时家人发现双肘关节、臀部及双膝关节出现黄色丘疹,初起为黄豆大小,无疼痛,后进行性增大,全身散在,主要集中在臀部、肘膝关节、足部及手、足指间(足趾间)。曾在外院皮肤科多次就诊,未予特殊诊治。
出处 《中国实用内科杂志》 CAS CSCD 北大核心 2012年第1期75-75,78,I0001,共3页 Chinese Journal of Practical Internal Medicine
关键词 高胆固醇血症 黄瘤病 家族性 心脏瓣膜病变 hypercholesteremia lipoid granulomatosis familial valvulopathy
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  • 1Fahed AC, Sara RM, Haddad FF, et al. Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation[J]. Molec Genet Metabol, 2011,102:181-188. 被引量:1
  • 2Al-Khateeb A, Talib HA, Mohamed MS, et aL Phenotype-genotype analyses of clinically diagnosed Malaysian familial hypercholestrolemic patients [J]. Adv Clin Exp Meal, 2013, 22( 1): 57-67. 被引量:1
  • 3Shiba MH, Arai H, Oikawa S, et al. Guidelines for the management of familial hypercholesterolaemia [J].J Atheroscler Thromb, 2012, 19 : 1043-100. 被引量:1
  • 4Watts GF, Gidding S, Wierzbicki AS, et al. Integrated guidance on the care of familial hypercholesterolemia from the International FH Fotmdation[J]. J Clin Lipidol, 2014, 2(19): 1-14. 被引量:1
  • 5Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia[J]. BMJ, 1991, 303:893-899.1192. 被引量:1
  • 6Williams RR, Hunt SC, Schumacher MC, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics [Jl.Am J Cardiol, 1993, 72: 171-177. 被引量:1
  • 7Defesche J. Familial hyperch01esterolemia[M]//Betteridge J, ed. Lipids and vascular disease, Vol. London, United Kingdom: Martin Dunitz; 2000:5-7. 被引量:1
  • 8Descamps OS. Familial hypercholesterolaemia in a Belgian community[J]. Acta Cardiol, 2000, 55(6):327-333. 被引量:1
  • 9Deepak B. Diagnosis and screening for familial hypercholesterolaemia finding the patients, finding the genes[J]. Ann Clin Biochem, 2006, 43(Pt 6) : 441-445. 被引量:1
  • 10har MC, Machado VA, Fonseca FA. Genetic screening for homozygous and heterozygous familial hypercholesterolemia[J]. Application Clin Genet, 2010:3 147-157. 被引量:1

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