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嗜铬细胞瘤伴脑白质病二例 被引量:1

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出处 《小儿急救医学》 2003年第1期60-60,共1页 Pediatric Emergency Medicine
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  • 1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
  • 2Bezman L,Moser AB,Raymond GV,et al.Adrenoleukodystrophy:incidence,new mutation rate,and results of extended family screening[J].Ann Neurol,2001,49(4):512-517. 被引量:1
  • 3Engelen M,Barbier M,Dijkstra IM,et al.X-linked adrenoleukodystrophy in women:a cross-sectional cohort study[J].Brain,2014,137(Pt 3):693-706. 被引量:1
  • 4Berger J,Forss-Petter S,Eichler FS.Pathophysiology of Xlinked adrenoleukodystrophy[J].Biochimie,2014,98:135-142. 被引量:1
  • 5Moser HW.Komrower Lecture.Adrenoleukodystrophy:natural history,treatment and outcome[J].J Inherit Metab Dis,1995,18(4):435-447. 被引量:1
  • 6Niu YF,Ni W,Wu ZY.ABCD1 mutations and phenotype distribution in Chinese patients with X-linked adrenoleukodystrophy[J].Gene,2013,522(1):117-120. 被引量:1
  • 7Engelen M,Kemp S,de Visser M,et al.X-linked adrenoleukodystrophy (X-ALD):clinical presentation and guidelines for diagnosis,follow-up and management[J].Orphanet J Rare Dis,2012,7:51. 被引量:1
  • 8Shimozawa N,Honda A,Kajiwara N,et al.X-linked adrenoleukodystrophy:diagnostic and follow-up system in Japan[J].J Hum Genet,2011,56(2):106-109. 被引量:1
  • 9Morita M,Kobayashi J,Yamazaki K,et al.A novel double mutation in the ABCD1 gene in a patient with X-linked adrenoleukodystrophy:analysis of the stability and function of the mutant ABCD1 protein[J].JIMD Rep,2013,10:95-102. 被引量:1

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