Adult-Onset Biotinidase Deficiency Induces Acutely Progressing Leukoencephalopathy.
作者信息
Beck Goichi, Hirozawa Daisuke, Honma Keiichiro, Baba Kousuke, Sumi Hisae, Morii Eiichi, Murayama Shigeo, Mochizuki Hideki
机构信息
Department of Neurology (GB, DH, KB, HS, SM, HM), Osaka University Graduate School of Medicine; Department of Pathology (KH, EM), Osaka University Graduate School of Medicine; and Department of Neurology and Neuropathology (the Brain Bank for Aging Research) (SM), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology.
出版信息
Neurol Clin Pract. 2021 Jun;11(3):e383-e386. doi: 10.1212/CPJ.0000000000000862.
Abstract
摘要
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本文引用的文献
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Are we missing patients with biotinidase deficiency in France?
Rev Neurol (Paris). 2018 May;174(5):273-274. doi: 10.1016/j.neurol.2017.11.007.
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Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.成人期生物素酶缺乏症：两名患有严重但可逆性视神经病变的患者。
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Biotinidase deficiency mimicking neuromyelitis optica: Initially exhibiting symptoms in adulthood.模仿视神经脊髓炎的生物素酶缺乏症：成年期首次出现症状。
Mult Scler. 2015 Oct;21(12):1604-7. doi: 10.1177/1352458515596457. Epub 2015 Jul 22.
4
Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration.严重生物素酶缺乏症小鼠的神经功能缺损与脱髓鞘和轴突变性有关。
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Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients.生物素酶缺乏症：一种可逆性代谢性脑病。4例患者的神经影像学和磁共振波谱结果
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Profound biotinidase deficiency in two asymptomatic adults.两名无症状成年人存在严重生物素酶缺乏症。
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Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.生物素酶缺乏症：亚急性坏死性脑脊髓病（ Leigh综合征）的一个病因。一例致死病例报告。
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