布朗-维阿莱托-范莱尔综合征和法齐奥-隆德病——儿童期可治疗的运动神经元疾病。 - Suppr

Suppr

超能文献

Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.

作者信息

Spagnoli Carlotta, De Sousa Carlos

机构信息

Great Ormond Street Hospital for Children, London, UK.

出版信息

Dev Med Child Neurol. 2012 Apr;54(4):292-3. doi: 10.1111/j.1469-8749.2011.04179.x. Epub 2011 Dec 29.

DOI:10.1111/j.1469-8749.2011.04179.x

PMID:22211384

Abstract

摘要

相似文献

Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.布朗-维阿莱托-范莱尔综合征和法齐奥-隆德病——儿童期可治疗的运动神经元疾病。

Dev Med Child Neurol. 2012 Apr;54(4):292-3. doi: 10.1111/j.1469-8749.2011.04179.x. Epub 2011 Dec 29.

Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.Brown-Vialetto-Van Laere 综合征：一例对核黄素无反应的患者，其 C20orf54 基因突变。

Pediatr Neurol. 2012 Jun;46(6):407-9. doi: 10.1016/j.pediatrneurol.2012.03.008.

Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.布朗-维阿莱托-范莱尔综合征伪装成神经免疫疾病：3例临床病例及文献综述

J Child Neurol. 2017 May;32(6):528-532. doi: 10.1177/0883073816689517. Epub 2017 Jan 24.

Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient.Brown-Vialetto-Van Laere 综合征：基因确诊患者的临床和神经影像学表现。

Amyotroph Lateral Scler Frontotemporal Degener. 2014 Mar;15(1-2):141-4. doi: 10.3109/21678421.2013.837931. Epub 2013 Oct 1.

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.Brown-Vialetto-Van Laere 与 Fazio Londe 综合征与一种类似轻度 MADD 的核黄素转运蛋白缺陷有关：一种具有潜在治疗方法的新的先天性代谢缺陷。

J Inherit Metab Dis. 2011 Feb;34(1):159-64. doi: 10.1007/s10545-010-9242-z. Epub 2010 Nov 26.

Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.四个新的 C20orf54 突变在 Brown-Vialetto-Van Laere 综合征患者中被发现。

J Hum Genet. 2012 Sep;57(9):613-7. doi: 10.1038/jhg.2012.70. Epub 2012 Jun 21.

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.马德拉斯运动神经元病（MMND）与引起布朗-维勒托-范拉尔特综合征的核黄素转运体基因缺陷不同。

J Neurol Sci. 2013 Nov 15;334(1-2):119-22. doi: 10.1016/j.jns.2013.08.003. Epub 2013 Aug 13.

Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.布朗-维亚莱托-范拉埃雷综合征：一种具有独特特征的婴儿期核黄素反应性神经元病。

Eur J Paediatr Neurol. 2014 Mar;18(2):231-4. doi: 10.1016/j.ejpn.2013.09.006. Epub 2013 Oct 16.

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.Brown-Vialetto-Van Laere 与 Fazio-Londe 重叠综合征：临床、生化和遗传学研究。

Neuromuscul Disord. 2012 Dec;22(12):1075-82. doi: 10.1016/j.nmd.2012.05.007. Epub 2012 Jul 21.

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.布朗-维阿莱托-范拉雷综合征的遗传学、放射学及临床变异性

Semin Pediatr Neurol. 2018 Jul;26:2-9. doi: 10.1016/j.spen.2017.03.001. Epub 2017 Apr 5.

引用本文的文献

First report of paternal uniparental disomy of chromosome 8 with mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations.8号染色体父源单亲二体合并2型Brown-Vialetto-van Laere综合征突变的首例报告及基因型-表型相关性分析

Front Genet. 2022 Sep 15;13:977914. doi: 10.3389/fgene.2022.977914. eCollection 2022.

Riboflavin depletion promotes longevity and metabolic hormesis in Caenorhabditis elegans.核黄素缺乏可促进秀丽隐杆线虫的寿命延长和代谢应激反应。

Aging Cell. 2022 Nov;21(11):e13718. doi: 10.1111/acel.13718. Epub 2022 Sep 30.

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.伊朗遗传性听力损失的异质性：全面综述

Arch Iran Med. 2016 Oct 1;19(10):720-728.

Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.核黄素转运体缺乏症的临床表现与转归：五年经验后的小型综述

J Inherit Metab Dis. 2016 Jul;39(4):559-64. doi: 10.1007/s10545-016-9924-2. Epub 2016 Mar 14.

Fazio Londe syndrome: A treatable disorder.法齐奥·隆德综合征：一种可治疗的疾病。

Ann Indian Acad Neurol. 2015 Jan-Mar;18(1):87-9. doi: 10.4103/0972-2327.144283.

Identification and functional characterization of the Caenorhabditis elegans riboflavin transporters rft-1 and rft-2.鉴定和功能表征秀丽隐杆线虫黄素转运蛋白 rft-1 和 rft-2。

PLoS One. 2013;8(3):e58190. doi: 10.1371/journal.pone.0058190. Epub 2013 Mar 6.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验