期刊文献+

从北京大学第一医院的一段历史看医学遗传学在小儿神经科临床实践中的作用(英文) 被引量:2

Medical genetic issues in clinical of pediatric neurology practice: a history of pediatrics in Peking University First Hospital
下载PDF
导出
摘要 The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history.It was established about 60 years ago.After the division of pediatric neurology(DPN) had been established in 1960s,it had been assigned to cover genetic disorders.During the recent 20 years,efforts have been put on three aspects:(1)Pediatric neurology clinical service and education;(2)research studies of childhood epilepsies and pediatric neurogenetic disorders;and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program.In this paper,we reviewed the history of the pediatric neurology division in our department,our clinical and research work and achievements for neurogenetic diseases. The Department of Pediatrics of Peking University First Hospital has a long term of outstanding history. It was established about 60 years ago. After the division of pediatric neurology (DPN) had been established in 1960s, it had been assigned to cover genetic disorders. During the recent 20 years, efforts have been put on three aspects : ( 1 ) Pediatric neurology clinical service and education;(2)research studies of childhood epilepsies and pediatric neurogenetic disorders; and (3) development of a strong DPN team to establish a comprehensive pediatric neurological program. In this paper, we reviewed the history of the pediatric neurology division in our department, our clilfical and research work and achievements for neurogenetic diseases.
作者 吴希如
出处 《北京大学学报(医学版)》 CAS CSCD 北大核心 2006年第1期94-99,共6页 Journal of Peking University:Health Sciences
关键词 神经系统疾病 遗传学 医学 儿童 北京大学第一医院 Nervous system diseases Genetics, medical Child Peking University First Hospital
  • 相关文献

参考文献14

二级参考文献100

  • 1马祎楠,郝磊,钮淑兰,许玉凤,张英,裴珮,卜定方,戚豫.家族性热性惊厥患儿酪蛋白激酶γ2基因单核苷酸多态性研究[J].中华医学遗传学杂志,2004,21(4):347-350. 被引量:7
  • 2唐炬,戚豫,包新华,吴希如.Rett综合征患者线粒体DNA突变的初步分析[J].中华医学杂志,1996,76(9):684-687. 被引量:3
  • 3杜嗣廉 张秋业 张宗昊 等.肾上腺脑白质营养不良六例综合报告[J].中华儿科杂志,1987,25:153-154.
  • 4Morrone A, Malvagia S, Donati MA, et al. Clinical findings and biochemical and molecular analysis of four patients with holccarboxylase synthetase deficiency[J]. Am J Med Genet,2002;111(1) :10--18.
  • 5Thuy LP, Belmont J, Nyhan WL. Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency [ J ]. Prenat Diagn, 1999; 19(2) : 108--112.
  • 6Sherwood WG, Saunders M, Robinson BH,et al. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset[J]. J Pediatr,1982;101(4) :546--550.
  • 7Touma E, Suormala T, Baumgarmer ER, et al. Holoearboxylase synthetase deficiency: report of a case with onset in late infancy[J].J Inher Metab Dis, 1999 ;22(2) : 115--122.
  • 8Suommla T, Fowler B, Jakobs C, et al. Late - onset holocarboxylase synthetase - defieieney : pre-and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy [ J ]. Eur J Pediatr,1998; 157(7) :570-575.
  • 9Mitchell G, Ogier H, Munnich A, et al. Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's disease[J]. Neuropediatrics, 1986; 17(3) : 129 -- 131
  • 10Ramaekers VT, Brab M, Rau G, et al. Recovery from neurological deficits following biotin treatment in a biotinidase Km variant [ J ].Neuropediatrics, 1993 ; 24 ( 2 ) : 98 -- 102.

共引文献101

同被引文献11

引证文献2

二级引证文献6

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部