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A Rare Case of Ophthalmoplegia with Ataxia in Genetically Proven Abetalipoproteinemia.

作者信息

Gurram Sandeep, Holla Vikram V, Sriram Neeharika, Phulpagar Prashant, Jha Shreyashi, Sharma Praveen, Mallithavana Siddaya, Kamble Nitish, Netravathi Manjunath, Yadav Ravi, Muthusamy Babylakshmi, Pal Pramod Kumar

机构信息

Department of Neurology National Institute of Mental Health and Neurosciences Bengaluru India.

Institute of Bioinformatics, International Technology Park Bengaluru India.

出版信息

Mov Disord Clin Pract. 2022 Dec 1;10(3):514-517. doi: 10.1002/mdc3.13626. eCollection 2023 Mar.

Abstract
摘要

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本文引用的文献

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Current Diagnosis and Management of Abetalipoproteinemia.β-脂蛋白缺乏血症的现行诊断与治疗。
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New Classification and Management of Abetalipoproteinemia and Related Disorders.无β脂蛋白血症及相关疾病的新分类与管理
Gastroenterology. 2021 May;160(6):1912-1916. doi: 10.1053/j.gastro.2020.11.040. Epub 2020 Dec 1.
4
Ataxia with vitamin E deficiency and abetalipoproteinemia.维生素E缺乏伴共济失调和无β脂蛋白血症。
Handb Clin Neurol. 2012;103:295-305. doi: 10.1016/B978-0-444-51892-7.00018-8.
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Ocular motor signs in some metabolic diseases.某些代谢性疾病中的眼球运动体征。
Arch Ophthalmol. 1981 Oct;99(10):1802-8. doi: 10.1001/archopht.1981.03930020676010.
9
Progressive ophthalmoplegia. Report of cases.进行性眼肌麻痹。病例报告。
Arch Neurol. 1968 Oct;19(4):362-76. doi: 10.1001/archneur.1968.00480040028002.
10
Ophthalmoplegia and dissociated nystagmus in adetalipoproteinemia.
Arch Ophthalmol. 1976 Apr;94(4):571-5. doi: 10.1001/archopht.1976.03910030265002.

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