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球细脑脑白质营养不良 被引量:1

Globoid Cell Leukodystrophy
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摘要 球细胞脑白质营养不良(globoidcell leukodystrophy,又称半乳糖脑苷脂累积病(galactosylceramidelipidosis)或(Krabbe)。是一种罕见的常染色体隐性遗传病。基因已克隆并定位于染色体14q24.3-q32.1,属于脑白质营养不良的范畴。1916年Krabbe首次对此病的临床和病理进行了描述。
出处 《当代医学》 2000年第12期45-46,共2页 Contemporary Medicine
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参考文献2

  • 1B. Bernardi,C. Fonda,E. Franzoni,E. Marchiani,E. Della Guistina,R. A. Zimmerman. MRI and CT in Krabbe’s disease: case report[J] 1994,Neuroradiology(6):477~479
  • 2Alan K. Percy,Gregory T. Odrezin,Paul D. Knowles,Emilie Rouah,Dawna D. Armstrong. Globoid cell leukodystrophy: comparison of neuropathology with magnetic resonance imaging[J] 1994,Acta Neuropathologica(1):26~32

同被引文献18

  • 1Veena A. Nagar,Meher A. Ursekar,Pradeep Krishnan,Bhavin G. Jankharia.Krabbe disease: unusual MRI findings[J]. Pediatric Radiology . 2006 (1)
  • 2Antonio MG,Norma MM,Lygia O,et al.Optic nerve enlargement and leukodystrophy. Arquivos de Neuropsiquiatria . 2010
  • 3Wing C,Dongcheul K,Causevic E,et al.Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. The Journal of Nutrition . 2010
  • 4White AB,Givogri MI,Lopez RA,et al.Psychosine accumulates in membrane microdomains in the brain of krabbe patients,disrupting the raft architecture. Neuroscience . 2009
  • 5White AB,Galbiati F,Givogri MI,et al.Persistence of psychosine in brain lipid rafts is a limiting factor in the therapeutic recovery of a mouse model for Krabbe disease. Journal of Neuroscience Research . 2011
  • 6David AW.Krabbe Disease. GeneReviews . 2000
  • 7Kondo Y,Adams JM,Marie T,et al.Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophy. The Journal of Neuroscience . 2011
  • 8James MP,Srinivas P,Joanne K,et al.Correlation of neurodevelopmental features and MRI findings in infantile krabbe’’s disease. American Journal of Roentgenology . 2009
  • 9Escolar ML,Poe MD,Smith JK,et al.Diffusion tensor imaging abnormalities in the corticospinal tracts of neonates with infantile krabbe disease. American Journal of Neuroradiology . 2009
  • 10Ripoll CB,Flaat M,Jessica KE,et al.Mesenchymal lineage stem cells have pronounced anti-inflammatory effects in the twitcher mouse model of Krabbe’’s disease. Stem Cells . 2011

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