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以投射纤维损害为主的肾上腺脑白质营养不良一例 被引量:2

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出处 《中华医学杂志》 CAS CSCD 北大核心 2003年第22期2000-2001,共2页 National Medical Journal of China
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  • 1Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review [ J ]. AJNR Am J Neuroradiol, 2013, 34(1): 5-13.
  • 2Helman G, Van Haren K, Bonkowsky JL, et al. Disease specific therapies in leukodystrophies and leukoeneephalopathies[ J]. Mol Genet Matab, 2015,114(4) : 527-536.
  • 3Spitzer P, Kohl Z, G61itz P, et al. Biochemical markers of neurodegeneration in hereditary diffuse leucoencephalopathy with spheroids[J]. BMJ Case Rep, 2014. pii: bcr2012008510, doi: 10.1136/ber-2012-O08510.
  • 4Kim E J, Shin H, Lee JH, et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases [ J ]. J Neurol Sci, 2015, 349( 1-2): 232-238.
  • 5Kondo Y, Kinoshita M, Fukushima K, et al. Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R[J]. Intern Med, 2013, 52(4) : 503-506.
  • 6Gsricke B, Lingor P, Stadelmann-Nessler C, et al. Cerebellar- type multiple system atrophy presenting with leucoencephalopathy [J]. J Neurol Neurosurg Psychiatry, 2012, 83(2) : 230-232.
  • 7Kleinfeld K, Mobley B, Hedera P, et al. Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation[ J]. J Neurol, 2013, 260(2) : 558-57l.
  • 8Labauge P, Fogli A, Niel F, et al. CACH/VWM syndrome and leucodystrophies related to EIF2B mutations [ J]. Rev Neurol ( Paris), 2007, 163 (8-9) : 793-799.
  • 9Labauge P, Horzinski L, Ayrignac X, et aL Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases[J]. Brain, 2009, 132(Pt 8) : 2161-2169.
  • 10Jefferson RJ, Absoud M, Jain R, et al. Alexander disease with periventricular calcification: a novel mutation of the GFAP gene [ J ]. Dev Med Child Neurol, 2010, 52 (12) : 1160-1163.

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