期刊文献+

X-连锁肾上腺脑白质营养不良 被引量:2

X-linked adrenoleukodystrophy
原文传递
导出
摘要 X-连锁肾上腺脑白质营养不良(X—linked adrenoleu—kodystrophy,X—ALD)是一种最常见的过氧化物酶体病,呈X-连锁隐性遗传,男性受累,男性发病率为1/21000,女性携带率约为1/14000。
作者 包新华
出处 《中国实用儿科杂志》 CSCD 北大核心 2009年第7期504-507,共4页 Chinese Journal of Practical Pediatrics
关键词 X-连锁肾上腺脑白质营养不良 极长链脂肪酸 造血干细胞移植 X-linked adrenoleukodystrophy verylong chain fatty acids hematopoieticstem cell transplantation
  • 相关文献

参考文献15

  • 1Bezman L, Moser AB, Raymond BG, et al. Adrenoleukodystrophy: incidence, new mutation rale, and results of extended family screening[J]. Ann Neurol,2001,49(4) : 512-517.
  • 2Moser HW, Smith KD, Watkins PA, et al. X-linked adrenoleukodystrophy[M]//Scriver CR, Beaudet AL, Sly WS, et al. The metabolic and molecular hases of inherited disease. 8th ed. New York: McGraw-Hill, 2001 : 3257-3301.
  • 3Moser HW, Mahmood A, Raymond GV. X-linked adranoleukodystrophy[J]. Nat Clin Pratt Neural, 2007,3 ( 3 ) : 140-151.
  • 4Moser HW, Loes DJ, Melhem ER, et al. X-linked adrenoleukodystrophy : overview and prognosis as a function of age and brain magnetic resonance imaging abnormality-a study involving 372 patients [ J ]. Neuropediatrics, 2000,31 (5) : 227-239.
  • 5Pan H, Xiong H, Wu Y, et al. ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy [ J ]. Pediatr Neurol, 2005,33(2) : 114-120.
  • 6王爱花,包新华,熊晖,潘虹,吴晔,张月华,时春艳,秦炯,吴希如.X连锁肾上腺脑白质营养不良的携带者筛查及产前诊断探讨[J].中华儿科杂志,2005,43(5):345-349. 被引量:7
  • 7平莉莉,包新华,王爱花,潘虹,吴晔,熊晖,张月华,秦炯,吴希如.40例X连锁肾上腺脑白质营养不良患者的基因型与表型(英文)[J].北京大学学报(医学版),2006,38(1):66-70. 被引量:2
  • 8平莉莉,包新华,王爱花,潘虹,吴晔,熊晖,姜玉武,秦炯,吴希如.X连锁肾上腺脑白质营养不良89例临床特征及基因型/表型关系[J].中华儿科杂志,2007,45(3):203-207. 被引量:21
  • 9包新华,平莉莉,王爱花,潘虹,吴晔,熊晖,张月华,时春艳,秦炯,吴希如.X-连锁肾上腺脑白质营养不良产前诊断探讨[J].中华医学遗传学杂志,2007,24(1):1-5. 被引量:4
  • 10Semmler A, Kohler W, Jung HH, et al. Therapy of X-linked adrenoleukodystrophy [J]. Expert Rev Neurother, 2008, 8 (9) : 1367-1379.

二级参考文献67

  • 1Berger J,Moser HW,Forss-Petter S.Leukodystrophies:recent developments in genetics,molecular biology,pathogenesis and treatment[J].Curr Opin Neurol,2001,14:305-312.
  • 2Moser H,Dubey P,Fatemi A.Progress in X-linked adrenoleukodystrophy[J].Curr Opin Neuol,2004,17:263-269.
  • 3Moser HW,smith KD,Watkins PA,et al.X-linked adrenoleukodystrophy[M]//Scriver CR,Beaudet AL,Sly WS,et al.The metabolic and molecular bases of inherited disease.New York:McGraw hill,2001:3257-3301.
  • 4Roerig P,Mayerhofer P,Holzinger A,et al.Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters[J].FEBS Lett,2001,492:66-72.
  • 5Dubois-Dalcq M,Feigenbaum V,Aubourg P.The neurobiology of X-linked adrenoleukodystrophy,a demyelinating peroxisomal disorder[J].Trends Neurosci,1999,22:4-12.
  • 6Pan H,Xiong H,Wu Y,et al.ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy[J].Pediatr Neurol,2005,33:114-120.
  • 7Coll M,Palau N,Camps C,et al.X-linked adrenoleukodystrophy in Spain.Ientification of 26 novel mutations in the ABCD1 gene in 80 patients.Improvement of genetic counseling in 162 relative females[J].Clin Genet,2005,67:418-424
  • 8Vargas CR,Coelho DM,Barschak AG,et al.X-Linked adrenoleukodystrophy:clinical and laboratory findings in 15 Brazilian patients[J].Genet Mol Biol,2000,23:261-264.
  • 9Smith KD,Kemp S,Braiterman LT,et al.X-linked adrenoleukodystrophy:genes,mutations,and phenotypes[J].Neurochem Res,1999,24:521-535.
  • 10Dodd A,Rowland SA,Hawkes SL,et al.Mutations in the adrenoleukodystrophy gene[J].Hum Mutat,1997,9:500-511.

共引文献31

同被引文献27

引证文献2

二级引证文献2

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