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C型尼曼-皮克病的临床和病理学进展 被引量:5

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摘要 尼曼-皮克病(Niemann-Pick disease,NP)是一组常染色体隐眭遗传性溶酶体内脂质贮积病。1961年Crocker将其分为4型:A型(NPA)为急性婴儿型,患儿重度肝脾肿大伴神经系统异常;B型(NPB)为青少年一成人型,仅内脏器官受累;
出处 《中华病理学杂志》 CAS CSCD 北大核心 2010年第5期356-360,共5页 Chinese Journal of Pathology
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  • 1Vanier MT,Millat G.Niemann-Pick disease type C.Clin Genet,2003,64(4):269-281.
  • 2Vanier MT,Pentehev P,Rodriguez-Lafrasse C,et al.NicmannPick disease type C:an update.J Inherit Metab Dis,1991,14(4):580-595.
  • 3Walkley SU,Suzuki K.Consequences of NPC1 and NPC2 loss of function in mammalian neurons.Biochim Biophys Acta,2004,1685(10):48-62.
  • 4Zhang M,Stmatka D,Donohue C,et al.Astrecyte-only Npcl reduces rleurorl cholesterol and triples life span of Npcl-/-mice.J Neurosci Res,2008,86(13):2848-2856.
  • 5Zervas M,Somers KL,Thrall MA,et al.Critical role for glycosphingolipids in Niemann-Pick disease type C.Curt Biol,2001,11(16):1283-1287.
  • 6Suzuki K,Parker CC,Pentchev PG,et al.Neurofibrillary tangles in Niemann-Pick disease type C.Acta Neuropathol,1995,89(3):227-238.
  • 7Karten B,Campenot RB,Vance DE,et al.The Niemann-Pick C1 protein in recycling endosomes of presynaptic nerve terminals.J Lipid Res,2006,47(3):504-514.
  • 8Solomon D,Winkelman AC,Zee DS,et al.Niemann-Pick type C disease in two affected sisters:ocular motor recordings and brainstem neuropathology.Ann N Y Acad Sci,2005,1039:436-445.
  • 9Hahn AF,Gilbert JJ,Kwarciak C,et al.Nerve biopsy findings in Niemann-Pick type Ⅱ(NPC).Acta Neuropathol,1994,87(2):149-154.
  • 10Sama JR,Larouche M,Marzban H,et al.Patterned Purkinje cell degeneration in mouse models of Nienman-Pick type C disease.J Comp Neurol,2003,456(3):279-291.

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