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山东大学学报 (医学版) ›› 2019, Vol. 57 ›› Issue (3): 115-116.doi: 10.6040/j.issn.1671-7554.0.2018.1136

• 病例报道 • 上一篇    

肾上腺脑白质营养不良1例及文献复习

姚晓敏1, 张玉超1,马红2,刘元涛1,张安英3,于民民1   

  1. 1.青岛大学附属青岛市市立医院内分泌科, 山东 青岛 266000;2.青岛大学附属青岛市市立医院保健科, 山东 青岛 266000;3.莒县人民医院内分泌科, 山东 莒县 276500
  • 发布日期:2022-09-27
  • 通讯作者: 于民民. E-mail:yuminmin@medmail.com.cn
  • 基金资助:
    国家自然科学基金(81501226)

  • Published:2022-09-27

关键词: 肾上腺脑白质营养不良, X连锁, 遗传性疾病

中图分类号: 

  • R586.1
[1] Tran C, Patel J, Stacy H, et al. Long-term outcome of patients with X-linked adrenoleukodystrophy: a retrospective cohort study[J]. Eur J Paediatr Neurol, 2017, 21(4): 600-609.
[2] Benjelloun FZM, Kriouile Y, Cheillan D, et al. Management of X-linked adrenoleukodystrophy in Morocco: actual situation[J]. BMC Res Notes, 2017, 10(1): 567.
[3] Shimozawa 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.
[4] Moser 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.
[5] Engelen M, Kemp S, Visser MD, et al. X-linked adrenoleukodystrophy(X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management[J]. Orphanet J Rare Dis, 2012, 7(1): 51.
[6] van Geel BM, Assies J, Wanders RJ, et al. X linked adrenoleukodystrophy: clinical presentation, diagnosis,and therapy[J]. J Neurol Neurosurg Psychiatry, 1997, 63(1): 4-14.
[7] Engelen M, Kemp S, Poll-The BT. X-linked adrenoleukodystrophy: pathogenesis and treatment[J]. Curr Neurol Neurosci Rep, 2014, 14(10): 486.
[8] Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy[J]. Nat Clin Pract Neurol, 2007, 3(3): 140-151.
[1] 孙晨曦, 王永静, 李爱, 宋宁霞, 陈慧娴, 冯晓丽, 邓玉鹏, 王涓冬, 郑成云. 1例罕见成年XLP-1病例报道[J]. 山东大学学报 (医学版), 2022, 60(3): 117-120.
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