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Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations: would this be the mechanism for progressive worsening?

作者信息

Pessoa A

机构信息

Hospital Infantil Albert Sabin, Universidade estadual do Ceará, Fortaleza, Ceará, Brazil.

出版信息

Eur J Neurol. 2018 Aug;25(8):e88-e90. doi: 10.1111/ene.13671.

DOI:10.1111/ene.13671
PMID:29984898
Abstract
摘要

相似文献

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Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations: would this be the mechanism for progressive worsening?一名因SNORD118突变患有拉布伦综合征患者的血脑屏障通透性：这会是病情进行性恶化的机制吗？
Eur J Neurol. 2018 Aug;25(8):e88-e90. doi: 10.1111/ene.13671.
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Blood-brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations.一名因SNORD118突变导致患有拉布伦综合征患者的血脑屏障通透性
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Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene.成人起病脑白质病伴颅内钙化和囊肿（Labrune 综合征）伴 SNORD118 基因新突变的系统性受累。
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Unraveling Labrune Syndrome: A Case Report on the Neurological Phenotype in SNORD118-Negative Patients.解析拉布伦综合征：一例SNORD118基因阴性患者的神经学表型病例报告
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引用本文的文献

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Leukoencephalopathy with calcifications and cysts: A case report with literature review.脑白质病伴钙化和囊肿：病例报告并文献复习。
Neurol Sci. 2023 Aug;44(8):2715-2729. doi: 10.1007/s10072-023-06776-y. Epub 2023 Apr 1.
2
Case Report: Clinical Features of Childhood Leukoencephalopathy With Cerebral Calcifications and Cysts Due to Variants.病例报告：因变异导致的伴有脑钙化和囊肿的儿童白质脑病的临床特征
Front Neurol. 2021 Jun 17;12:585606. doi: 10.3389/fneur.2021.585606. eCollection 2021.
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Paediatric neurosurgical implications of a ribosomopathy: illustrative case and literature review.
儿童神经外科学中的核糖体病学意义：案例分析及文献回顾。
Childs Nerv Syst. 2022 Mar;38(3):643-648. doi: 10.1007/s00381-021-05208-6. Epub 2021 May 21.