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以黄疸为主要表现的尼曼-匹克病一例 被引量:3

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摘要 患者 男,16岁,汉族,因“反复眼黄、皮肤黄3年,再发1个月”于2008年6月5日入院。3年前其家人发现其眼黄、皮肤黄,无其他任何不适。曾多次在当地县医院门诊查肝功能示总胆红素升高,以间接胆红素升高为主(波动于25~45μmol/L),余正常。否认“肝炎”病史,无外伤、手术、输血史,无药物过敏史,无使用损肝药物史,无疫水、疫区接触史,无嗜酒史,家族中无类似病史。父母非近亲结婚。
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2009年第3期281-281,共1页 Chinese Journal of Medical Genetics
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同被引文献14

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  • 6Desnick JP, Kim J, He X, et al. Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann - Pick disease[J]. Mol Med,2010,16(7 -8) :316 -321.
  • 7Dardis A, Zampieri S, Filocamo M, et al. Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease [ J ]. Hum Mutat ,2005 ,26 ( 2 ) : 164.
  • 8Cho YU,Chae JD,Lee WM,et al. A case of a Korean adult affected by type B Niemann - Pick disease : Secondary sea - blue histiocytosis and molecular characterization [ J ]. Korean J Lab Med, 2009,29 ( 2 ) : 97 - 103.
  • 9Kalman L, Wilson JA, Buller A, et al. Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi jewish descent [ J ]. J Mol Diagn,2009,1 ! (6) :530 - 536.
  • 10王珏,顾中华,李天宇.幼年型尼曼-匹克病一例[J].中华医学遗传学杂志,2010,27(1):46-46. 被引量:1

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