切换至 "中华医学电子期刊资源库"

中华妇幼临床医学杂志(电子版) ›› 2014, Vol. 10 ›› Issue (06) : 820 -821. doi: 10.3877/cma.j.issn.1673-5250.2014.06.028

所属专题: 经典病例 经典病例 文献

病例报告

大龄儿童尼曼-匹克病1例
韩雪芹1, 周晨燕1,*()   
  1. 1. 610041 成都,四川大学华西第二医院儿科
  • 收稿日期:2014-03-09 修回日期:2014-06-12 出版日期:2014-12-01
  • 通信作者: 周晨燕
  • 基金资助:
    国家卫生公益性行业科研专项基金(200902008-02)
  • Received:2014-03-09 Revised:2014-06-12 Published:2014-12-01
引用本文:

韩雪芹, 周晨燕. 大龄儿童尼曼-匹克病1例[J]. 中华妇幼临床医学杂志(电子版), 2014, 10(06): 820-821.

图1 患者骨髓涂片查见尼曼-匹克细胞
图2 患者基因测序结果
[1]
胡亚美,江载芳,主编.诸福棠实用儿科学.7版[M].北京:人民卫生出版社,2002:2154.
[2]
廖清奎,主编.小儿血液病基础与临床[M].北京:人民卫生出版社,2001:626–630.
[3]
Crocker AC, Farber S. Niemann-Pick disease: a review of eighteen patients[J]. Medicine, 1958, 37 (16) : 1–95.
[4]
Schuchman EH. The pathogensis and treatment of acid sphingomyelinase-deficient Nimannn-Pick disease [J]. J Inherit Metab Dis, 2007, 30(5) : 654–663.
[5]
Victor S, Coulter JB, Besley GT, et al. Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant[J]. J Inherit Metab Dis, 2003, 26(8) : 775–785.
[6]
Quintern LE, Schuchman EH, Levtan O, et al. Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts [J]. EMBO, 1989, 8 (9): 2469–2473.
[7]
Murate T, Suzuki M, Hattori M, et al. Up-regulation of acid sphingomyelinase during retinoic acid-induced myeloid differentiation of NB4, a human acute promyelocytic leukemia cell line[J]. J Biol Chem, 2002, 277(12): 9936–9943.
No related articles found!
阅读次数
全文


摘要