GLUT-1 Deficiency Syndrome; HSP Mimic: A Case Report.
作者信息
Rohatgi Shalesh, Rao Prajwal, Nirhale Satish, Naphade Pravin, Dubey Prashant
机构信息
Department of Neurology, Dr. D. Y. Patil Medical College, Hospital and Research Center, Dr. D. Y. Patil Vidyapeeth, Pune, Maharashtra, India.
出版信息
Ann Indian Acad Neurol. 2023 May-Jun;26(3):307-308. doi: 10.4103/aian.aian_955_22. Epub 2023 Mar 13.
Abstract
摘要
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本文引用的文献
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A Challenging Diagnosis of Atypical Glut1-DS: A Case Report and Literature Review.非典型葡萄糖转运蛋白1缺陷综合征的疑难诊断：一例报告及文献综述
Front Neurol. 2021 Jan 28;11:549331. doi: 10.3389/fneur.2020.549331. eCollection 2020.
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The glucose transporter type 1 (Glut1) syndromes.葡萄糖转运蛋白 1 型（Glut1）综合征。
Epilepsy Behav. 2019 Feb;91:90-93. doi: 10.1016/j.yebeh.2018.06.010. Epub 2018 Jul 31.
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A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.一项为期23年的随访研究发现，最初被诊断为复杂性遗传性痉挛性截瘫的患者患有葡萄糖转运蛋白1缺乏综合征。
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GLUT1 deficiency syndrome: an update.葡萄糖转运蛋白1缺乏综合征：最新进展
Rev Neurol (Paris). 2014 Feb;170(2):91-9. doi: 10.1016/j.neurol.2013.09.005. Epub 2013 Nov 20.
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Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.葡萄糖转运蛋白-1 缺乏综合征：一种可治疗疾病的临床表现和遗传谱不断扩大。
Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2.
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