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成人型神经元蜡样质脂褐质沉积症 被引量:3

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出处 《中华神经科杂志》 CAS CSCD 2000年第2期125-125,共1页 Chinese Journal of Neurology
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  • 1肖波,肖岚,伍赶球,陈清棠,谢光洁,彭隆祥,梁静慧,刘艳.不同类型神经元蜡样质脂褐质沉积症的超微结构特征[J].中华医学遗传学杂志,1996,13(4):225-225. 被引量:9
  • 2van Diggelen OP, Keulemans JL, Kleijer WJ, et al. Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2)[J]. Europ J Paediatr Neurol, 2001,5 : 189 -192.
  • 3Wisniewski KE, Kida E,Golabek AA ,et al. Neuronal ceroid lipofuscinoses : classification and diagnosis [J]. Adv Genet, 2001,45 :1-34.
  • 4Wisniewski KE. Pheno/genotypic correlations of neuronal ceroid lipofuscinoses[J]. Neurology, 2001,57(4) :576-581.
  • 5Berkovic SF,Carpenter S,Andermann F,et al. Kufs' disease, a critical reappraisal [J]. Brain, 1988,111 : 27-62.
  • 6Constantinidis J,Wisniewski KE,Wisniewski TM. The adult and a new late adult forms of neuronal ceroid lipofuscinosis[J]. Acta Neuropathol (Berl), 1992,83:461-468.
  • 7Zhong NA,Wisniewski KE,Ju W,et al. Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses [J].Genet Test, 2000,4: 243-248.
  • 8Kida E, Golabek AA,Wisniewski KE. Cellular pathology and pathogenic aspects of neuronal ceroid lipofuscinosis [J]. Adv Genet, 2001,45 : 35-68.
  • 9Sondhi D,Hackett NR,Apblett RL,et al. Feasibility of gene therapy for late neuronal ceroid lipofuscinosis [J]. Arch Neurol,2001,58(11) : 1793-1798.
  • 10Mole SE, Williams RE, Goebel HH, Correlations between genotype, ultrastructural, morphology and clinical phenotype in the neuronal ceroid lipofuscinoses[J].Neurologenetics , 2005,6 : 107- 126,

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