Oculogyric Crisis in a Girl with Infantile Parkinsonism-Dystonia-2.
作者信息
Singanamalla Bhanudeep, Kochar Gurpreet, Saini Arushi Gahlot
机构信息
Pediatric Neurology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Department of Pediatric Neurology, Satguru Partap Singh Hospital, Ludhiana, Punjab, India.
出版信息
Ann Indian Acad Neurol. 2021 Sep-Oct;24(5):789-790. doi: 10.4103/aian.AIAN_1211_20. Epub 2021 Aug 5.
Abstract
摘要
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本文引用的文献
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Parkinsonism in diseases predominantly presenting with dystonia.以肌张力障碍为主要表现的疾病中的帕金森病。
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A novel missense variant in causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets.一个位于……的新型错义变体导致隐性脑单胺囊泡转运疾病以及血小板中血清素缺失。 （注：原文中“in”后面缺少具体内容）
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Oculogyric Crisis with Downward Deviation - A Photo Essay.伴有向下偏斜的动眼危象——一篇图文并茂的文章
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Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport disease.外显子组测序有助于识别和治疗脑多巴胺 - 血清素囊泡转运疾病。
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Parkinsonism Relat Disord. 2017 Mar;36:3-9. doi: 10.1016/j.parkreldis.2016.11.012. Epub 2016 Nov 23.
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Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.脑多巴胺 - 5-羟色胺囊泡转运疾病，表现为严重的婴儿期低张力帕金森氏症。
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