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同胞共患脑白质海绵样变性病2例 被引量:2

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出处 《中国循证儿科杂志》 CSCD 2007年第4期316-317,共2页 Chinese Journal of Evidence Based Pediatrics
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参考文献6

  • 1[2]Boughamoura L,Chaabane F,Tilouche S,et al.Canavan disease or N-acetyl aspartic aciduria:a case report.Arch Pediatr,2007,14(2):173-176
  • 2[3]吴瑞萍,胡亚美,江载芳,主编.朱福棠实用儿科学.第7版.北京:人民卫生出版社,2002.744-771
  • 3[4]Janson CG,McPhee SW,Francis J,et al.Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1 H-MRS) and diffusion-weighted MRI.Neuropediatrics,2006,37(4):209-221
  • 4[5]Srikanth SG,Chandrashekar HS,Nagarajan K,et al.Restricted diffusion in Canavan disease.Childs Nerv Syst,2007,23(4):465-468
  • 5[7]Bitto E,Bingman CA,Wesenberg GE,et al.Structure of aspartoacylase,the brain enzyme impaired in Canavan disease.Proc Natl Acad Sci USA,2007,104(2):456-461
  • 6[8]Hershfield JR,Pattabiraman N,Madhavarao CN,Mutational analysis of aspartoacylase:implications for Canavan disease.Brain Res,2007,1148(1):1-14

同被引文献34

  • 1沈俊海,鲍为群,鲍克容.儿童肾上腺脑白质营养不良(附11例报告)[J].苏州大学学报(医学版),2004,24(4):582-583. 被引量:1
  • 2刘玉玺,李扬波,崔爱琴,徐锡萍,彭隆祥,徐家立,李琳.亚历山大病的临床和病理一例报告[J].中华神经科杂志,2004,37(5):477-477. 被引量:5
  • 3麻宏伟,吕峻峰,姜俊,陈丽英,牛国辉,吴保敏,Naomi Kanazawa,Seiichi Tsujino.一例婴儿型亚历山大病胶质细胞原纤维酸性蛋白基因突变研究[J].中华医学遗传学杂志,2005,22(1):79-81. 被引量:4
  • 4Meins M, Broekmann K, Yadav S, et al. Infantile Alexander disease: a GFAP mutalion in monozygotic twins and novei mutalions in two other patients [J]. Neuropediatries, 2002, 33: 194-198.
  • 5Rodriguez D, Gauthier F, Bertini E,et al. Infantile Alexander disease: speclrum of GFAP mutation and genotype-phenotype correlation[J]. Am J Hum Genet, 2001,69:1134-1140.
  • 6Knapp MS, Naidu S, Breiter SN. Alexander disease: diagnosis with MR imaging[J].Am J Neuroradial, 2001,23 (3) : 541-552.
  • 7刘焯林,梁秀玲,张成.神经遗传病学[M].2版.北京:人民卫生出版社,2002:391.
  • 8Srikanth SG, Chandrashekar HS, Nagarajan K, et al. Restricted diffusion in Canavan disease [J]. Childs Nerv Syst, 2007, 23 (4) :465-468.
  • 9Bitto E, Bingman CA, Wesenberg GE, et al. Structure of aspartoacylase, the brain enzyme impaired in Canavan disease [J]. Proc Natl Acad Sci USA,2007, 104(2) :456-461.
  • 10Rapin I,Gravel J.“Auditory neuropathy”:physiologicand pathologic evidence calls for more diagnostic specific-ity[J].Int J Pediatr Otorhinolaryngol,2003,67(7):707-728.

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