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Rett综合征2例报告

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作者 韩蕴丽 刘壮
出处 《广西医学》 CAS 2008年第12期1955-1956,共2页 Guangxi Medical Journal
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参考文献3

  • 1Amir RE, Van den Veyver IB, Wan M, et al. Rett syndrome is caused by mutations on X-linked MeCP2,encoding methyl-CpG binding protein 2[J]. Nat Genet,1999,23(2) :185 - 188.
  • 2包新华,潘虹,宋福英,吴希如.Rett综合征的临床特征及MeCP2的基因型与表型的关系研究[J].中华儿科杂志,2004,42(4):252-255. 被引量:12
  • 3Ellaway CJ, Peat J, William S, et al. Medium-term open label trial of L-carnitine in Bert syndrome[J]. Brain Devel ,2001,23( 1 ) :85 -89.

二级参考文献12

  • 1Wu XR,Zhao DH,Ling Q,et al.Rett syndrome in China:report of 9 patients.Pediatr Neurol,1988,4:126-127.
  • 2Pan H,Wang YP,Bao XH,et al.MECP2 gene mutation analysis in Chinese patients with Rett syndrome.Eur J Hum Genet,2002,10:484-486.
  • 3Hagberg B,Hanefeld F,Percy A,et al.An update on clinically applicable diagnostic criteria in Rett syndrome.Eur J Paediatr Neurol,2002,6:293-297.
  • 4Hagberg B,Skjeldal O.Rett variants:a suggested model for inclusion criteria.Pediatr Neurol,1994,11:5-11.
  • 5Kerr A,Belichenko P,Woodcock T,et al.Mind and brain in Rett disorder.Brain Devel,2001,23:S44-S49.
  • 6Dunn HG.Importance of Reit syndrome in child neurology.Brain Devel,2001,23:S38-S43.
  • 7Hagberg B,Berg M,Steffenburg U.Three decades of sociomedical experiences from West Swedish Rett females 4-60 years of age.Brain Devel,2001,23:S28-S31.
  • 8Ellaway C J,Peat J,Williams,et al.Medium-term open label trial of L-carnitine in Rett syndrome.Brain Devel,2001,23:S85-S89.
  • 9Yamashita Y,Kondo I,Fnkuda T,et al.Mutation analysis of the methyl-CpG-binding protein 2 gene ( MECP2 ) in Rett patients with preserved speech.Brain Devel,2001,23:S157-S160.
  • 10Zappella M,Meloni I,Longo T,et al.Study of MECP2 gene in Rett syndrome variants and autistic girls.Am J Med Genet Part B,2003,119B:102-107.

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