1Schiffmann R,Fogli A,van der Knaap MS,et al. Childhood ataxia with central nervous system hypomyelination/vanishing white matter. In:GeneReviews at GeneTests:Medical Genetics Information Resourse (database online ) [M/OL]. Seattle: University of Washington, 1997-2007 [ 2007 - 09 - 01 ]. http://www. genetests. org.
4Kaczorowska UM, Kuczynski D, Jurkiewicz E, et al. Acute fright induces onset of symptoms in vanishing white matter disease-case report [ J ]. Eur Pediatr Neurol Soc ,2006,10 (4) :264-270.
5Van der Knaap MS,van Berkel CG,Herms J,et al. eIF2B-related disorders:antenatal onset and involvement of multiple organs[ J]. Am J Hum Genet ,2003,73 ( 5 ) : 1199-1207.
6Rosemberg S, Leite CC, Arita FN, et al. Leukoencephalopathy with vanishing white matter:report of four cases from three unrelated Brazilian families [ J ] Brain Developm ,2002,24 (4) :250- 256.
7Matsui M, Mizutani K, Ohtake H, et al. Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter. [ J]. Eur Neurol,2007,57 (1) :57-58.
8Leegwater PA, Pronk JC, van der Knaap MS. Leukoencephalopathy with vanishing white matter:from magnetic resonance imaging pattern to five genes [ J ]. J Child Neurol,2003,18 (9) :639-645.
9Jurkiewicz E, Mierzewska H, Bekiesinska-Figatowska M, et al. MRI of a family with leukoencephalopathy with vanishing white matter [ J ]. Pediatr Radiol,2005,35 ( 10 ) : 1027-1030.
10Van Kollenburg B,Thomas A, Vermeulen G,et al. Regulation of protein synthesis in lymphoblasts from vanishing white matter patlents [J]. Neurobiol Dis ,2006,21 (3) :496-504.
二级参考文献14
1Leegwater PAJ,Pronk JC,van der Knaap MS.Leukoencephalopathy with vanishing white matter:from magnetic resonance image pattern to five genes.J Child Neurol,2003,18:639-645.
2Schiffmann R,van der Knaap MS.The latest on leukodystrophies.Curr Opin Neurol,2004,17:187-192.
3van der Knaap MS,van Berkel CGM,Herms J,et al.eIF2Brelated Disorders:antenatal onset and involvement of multiple organs.Am J Hum Genet,2003,73:1199-1207.
4van der Knaap MS,Barth PG,Gabreels FJM,et al.A new leukoencephalopathy with vanishing white matter.Neurology,1997,48:845-855.
5ver der Knaap MS,Kamphorst W,Barth PG,et al.Phenotypic variation in leukoencephalopathy with vanishing white matter.Neurology,1998,51:540-547.
6Fogli A,Boespflng-Tanguy O.The large spectrum of eIF2Brelated diseases.Biochem Soc Trans,2006,34:22-29.
7Jurkiewicz E,Mierzewska H,Berkiesinsk-Figatowska M,et al.MRI of a family with leukoencephalopathy with vanishing white matter.Pediatr Radiol,2005,35:1027-1030.
8Leegwater PAJ,Vermeuden G,Konst AAM,et al.Subunits of translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.Nature Genet,2001,29:383-388.
9ven der Knaap MS,Leegwater PAJ,Konst AAM,et al.Mutations in each of the five subunits of translateon initiateon factor eIF2B can cause leikoencephalopathy with vanishing white matter.Ann Neurol,2002,51:264-270.
10Fogli A,Schiffmann R,Bertini E,et al.The effect of genotype on the natural history of eIF2B-related leukodystrophies.Neurology,2004,62:1509-1517.
3Barker PB, Horsk a A. Neuroimaging in leukodystrophies [J]. J Child Neurol, 2004,19(8) :559-570.
4Cecil KM. MR spectroscopy of metabolic disorders[J]. Neuroimaging Clin N Am, 2006, 16 (1) :87-116.
5Kingsley PB, Shah TC, Woldenberg R. Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy[J]. NMR Biomed,2006,19(4) :435-462.
7Kumar S, Mattan NS, de Vellis J. Canavan disease : a white matter disorder[J]. Ment Retard Dev Disabil Res Rev,2006,12(2) : 157-165.
8Dinopoulos A, Gorospe JR, Egelhoff JC, et al. Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease [J].AJNR Am J Neuroradiol, 2006,27 (10) : 2088-2092.
9Bizzi A, Castelli G, Bugiani M, et al. Classification of childhood white matter disorders using proton MR spectroscopic imaging [J]. AJNR Am J Neuroradiol,2008,29(7) : 1270-1275.
10Willemsen MA, van der Graaf M, van der Knaap MS, et al. MR imaging and proton MR spectroscopic studies in Sjogren-Larsson syndrome: characterization of the leukoencephalopathy [J]. AJNR Am J Neuroradiol, 2004,25 (4) : 649-657.
