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慢性智能减退、共济失调并脾肿大病例讨论

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摘要 病例资料 患者住院号:891×××,男性,29岁,汉族,上海市人。职业:IT职员。因“智能减退、言语不利伴行走不稳进行性加重9年”于2014年6月9日收入复旦大学附属华山医院神经内科。
出处 《中国临床神经科学》 2014年第6期711-716,共6页 Chinese Journal of Clinical Neurosciences
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  • 1Hishinuma A, Fukata S, Nishiyama S, et al. Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan[J]. J Clin Endocrinol Metab,2006,91:3100-3104.
  • 2Cogan DG, Chu FC, Reingold D, et al. Ocular motor signs in some metabolic diseases[J]. Arch Ophthalmol,1981,99:1802-1808.
  • 3Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease[J]. J Inherit Metab Dis,2007,30:654-663.
  • 4Kolodny EH. Niemann-Pick disease[J]. Curt Opin Hematol,2000, 7:48-52.
  • 5Zhang H, Wang Y, Lin N, et al. Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPCI/NPC2 gene mutation confirmation in Chinese patients[J]. Orphanet J Rare Dis,2014,9:82-82.
  • 6Vanier MT, Revol A, Ficbet M. Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease - development and evaluation of a microprocedure[J]. Clin Chim Acta, 1980, I06:257-67.
  • 7Ries M, Schaefer E, Luhrs T, et al. Critical assessment of chitotfiosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C[J]. J Inherit Metab Dis,2006,29:647-652.
  • 8Suzuki O, Abe M. Secondary sea-blue histiocytosis derived from Niemann-Pick disease[J]. J Clin Exp Hematop,2007,47:19-21.
  • 9Wakida K, Matsuyama Z, Suzuki Y, et al. Diagnosis of adult type of Niemann-Pick disease (type C) in two brothers by filipin staining of bone marrow smears [J]. No To Shinkei,2004,56:1047-1053.
  • 10Carstea ED, Morris JA, Coleman KG, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis[J]. Science, 1997,277:228-231.

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