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尼曼-匹克病合并骨髓转移癌1例并文献复习 被引量:2

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摘要 尼曼-匹克病(Niemann-Pick disease,NPD)又称神经鞘磷脂病,是一种罕见的遗传性糖脂代谢性疾病,以年幼儿童多发。由于鞘磷脂及胆固醇沉积于肝、脾、胰、脑和骨髓等器官,该病患者具有肝脾肿大、眼底黄斑部樱桃红色斑及骨髓中大的泡沫样细胞等主要特征。骨髓转移癌是骨髓外的肿瘤细胞通过血液和体液循环扩散到人体骨髓造血组织而引起的临床血液学改变。患者常表现为贫血、血小板减少等,
出处 《苏州大学学报(医学版)》 CAS 北大核心 2010年第5期1119-1121,F0004,共4页 Suzhou University Journal of Medical Science
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参考文献3

  • 1E. H. Schuchman. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease[J] 2007,Journal of Inherited Metabolic Disease(5):654~663
  • 2J. Imrie,S. Vijayaraghaven,C. Whitehouse,S. Harris,L. Heptinstall,H. Church,A. Cooper,G. T. N. Besley,J. E. Wraith. Niemann–Pick disease type C in adults[J] 2002,Journal of Inherited Metabolic Disease(6):491~500
  • 3W. E. Kaminski,H. H. Klünemann,B. Ibach,C. Aslanidis,H. E. Klein,G. Schmitz. Identification of novel mutations in the NPC1 gene in German patients with Niemann–Pick C disease[J] 2002,Journal of Inherited Metabolic Disease(5):385~389

同被引文献16

  • 1胡亚美 江载芳.诸福棠实用儿科学7版[M].北京:人民卫生出版社,2002.441.
  • 2Bu J, Ashe KM, Bringas J, et al. Merits of combina- tion cortical, subcortical, and cerebellar injections for the treatment of niemann-pick disease type A. Mol Ther, 2012, 20: 1893-1901.
  • 3Heron B, Ogler H. Niemann-Pick type C disease: clini- cal presentations in pediatric patients. Arch Pediatr, 2010, 17: 45-49.
  • 4Iaselli F, Rea G, Cappabianca S, et al. Adult-onset pulmonary involvement in Niemann-Pick disease type B. Monaldi Arch Chest Dis, 2011, 75 : 235-240.
  • 5Skorpen J, Helland IB, TennCe B. N Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report. J Med Case Rep, 2012, 6: 383.
  • 6Walterfang M, Yu-Chien C, Imrie J, et al. Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat. Orphanet J Rare Dis, 2012, 7: 76.
  • 7Vance J E. Lipid imbalance in the neurological disorder,Niemann-Pick C disease[J].FEBS Letters,2006,(23):5518-5524.
  • 8Patterson M C,Vanier M T,Suzuki K. Niemann-Pick disease type C:a lipid trafficking disorder[A].New York:McGraw-Hill,2001.3611-3634.
  • 9Patterson M C. A riddle wrapped in a mystery.understanding Niemann-Pick disease,type C[J].Neurologist,2003,(06):301-310.
  • 10Vanier M T,Millat G. Niemann-Pick disease type C[J].Clinical Genetics,2003,(04):269-281.

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