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Vanishing white matter leukodystrophy due to novel EIF2B4 mutation in an adult female.

作者信息

Goyal Sheetal, Mudabbir Mukheem, Taallapalli A V R, Nashi Saraswati, Kulkarni Girish Baburao

机构信息

Department of Neurology, Nemcare Hospital, Guwahati, Assam, India.

Department of Neurology, Continental Hospital Hyderabad, India.

出版信息

J Neurosci Rural Pract. 2023 Jan-Mar;14(1):191-193. doi: 10.25259/JNRP-2022-2-48. Epub 2023 Jan 9.

DOI:10.25259/JNRP-2022-2-48
PMID:36891084
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9945379/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3fcb/9945379/3e2a6c1c0b62/JNRP-14-191-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3fcb/9945379/3d8b6ce44260/JNRP-14-191-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3fcb/9945379/3e2a6c1c0b62/JNRP-14-191-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3fcb/9945379/3d8b6ce44260/JNRP-14-191-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3fcb/9945379/3e2a6c1c0b62/JNRP-14-191-g002.jpg

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Vanishing white matter leukodystrophy due to novel EIF2B4 mutation in an adult female.一名成年女性因新型EIF2B4突变导致的消失性白质脑白质营养不良。
J Neurosci Rural Pract. 2023 Jan-Mar;14(1):191-193. doi: 10.25259/JNRP-2022-2-48. Epub 2023 Jan 9.
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本文引用的文献

1
Natural History of Vanishing White Matter.脑白质消融症的自然病史。
Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6.
2
mutations in vanishing white matter disease hypersuppress translation and delay recovery during the integrated stress response.消失性脑白质病中的突变超抑制整合应激反应期间的翻译并延迟恢复。
RNA. 2018 Jun;24(6):841-852. doi: 10.1261/rna.066563.118. Epub 2018 Apr 9.
3
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.由一种新型EIF2B3突变引起的成人起病型脑白质消失症
Arch Neurol. 2012 Jun;69(6):765-68. doi: 10.1001/archneurol.2011.1942.
4
Genotype-phenotype correlation in vanishing white matter disease.进行性脑白质营养不良的基因型-表型相关性研究。
Neurology. 2010 Oct 26;75(17):1555-9. doi: 10.1212/WNL.0b013e3181f962ae.
5
Leukoencephalopathy with vanishing white matter: a review.脑白质消融症：综述。
J Neuropathol Exp Neurol. 2010 Oct;69(10):987-96. doi: 10.1097/NEN.0b013e3181f2eafa.
6
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.成人起病的eIF2B相关疾病的自然史：16例多中心调查。
Brain. 2009 Aug;132(Pt 8):2161-9. doi: 10.1093/brain/awp171.
7
The spectrum of mutations for the diagnosis of vanishing white matter disease.用于诊断儿童进行性脑白质营养不良的突变谱。
Neurol Sci. 2006 Sep;27(4):271-7. doi: 10.1007/s10072-006-0683-y.
8
Vanishing white matter disease.脑白质消失症
Lancet Neurol. 2006 May;5(5):413-23. doi: 10.1016/S1474-4422(06)70440-9.
9
The large spectrum of eIF2B-related diseases.与真核起始因子2B（eIF2B）相关疾病的广泛谱系。
Biochem Soc Trans. 2006 Feb;34(Pt 1):22-9. doi: 10.1042/BST20060022.
10
A Japanese girl with leukoencephalopathy with vanishing white matter.
Brain Dev. 2001 Mar;23(1):58-61. doi: 10.1016/s0387-7604(00)00198-4.