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Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD).

作者信息

Bennett Michael J

出版信息

J Inherit Metab Dis. 2012 Nov;35(6):941-2. doi: 10.1007/s10545-012-9519-5. Epub 2012 Sep 14.

DOI:10.1007/s10545-012-9519-5
PMID:22976761
Abstract
摘要

相似文献

1
Brown-Vialetto-Van Laere and Fazio Londe syndromes: defects of riboflavin transport with biochemical similarities to multiple acyl-CoA dehydrogenation defects (MADD).布朗-维阿莱托-范莱尔综合征和法齐奥-隆德综合征:核黄素转运缺陷,在生化方面与多种酰基辅酶A脱氢酶缺乏症(MADD)相似。
J Inherit Metab Dis. 2012 Nov;35(6):941-2. doi: 10.1007/s10545-012-9519-5. Epub 2012 Sep 14.
2
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.
3
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.由于 SLC52A2 中的错义突变导致核黄素转运受损会引起 Brown-Vialetto-Van Laere 综合征。
J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3.
4
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.核黄素反应性神经病的临床、病理及功能特征
Brain. 2017 Nov 1;140(11):2820-2837. doi: 10.1093/brain/awx231.
5
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.
6
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.
7
Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.布朗-维亚莱托-范拉雷和法齐奥-隆德综合征:具有令人费解的表型和遗传方式的 SLC52A3 突变。
Eur J Neurol. 2021 Mar;28(3):945-954. doi: 10.1111/ene.14682. Epub 2021 Jan 5.
8
The audiovestibular profile of Brown-Vialetto-Van Laere syndrome.布朗-维阿莱托-范莱尔综合征的听觉前庭特征。
J Laryngol Otol. 2021 Nov;135(11):1000-1009. doi: 10.1017/S0022215121002395. Epub 2021 Sep 9.
9
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.
10
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.

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Bacterial Production, Characterization and Protein Modeling of a Novel Monofuctional Isoform of FAD Synthase in Humans: An Emergency Protein?细菌生产、鉴定及人类新型单功能黄素腺嘌呤二核苷酸合酶同工型的蛋白质建模:一种应急蛋白?
Molecules. 2018 Jan 6;23(1):116. doi: 10.3390/molecules23010116.

本文引用的文献

1
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.由于 SLC52A2 中的错义突变导致核黄素转运受损会引起 Brown-Vialetto-Van Laere 综合征。
J Inherit Metab Dis. 2012 Nov;35(6):943-8. doi: 10.1007/s10545-012-9513-y. Epub 2012 Aug 3.
2
Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome.早用大剂量核黄素治疗 Brown-Vialetto-Van Laere 综合征 1 例
Dev Med Child Neurol. 2012 Feb;54(2):187-9. doi: 10.1111/j.1469-8749.2011.04142.x. Epub 2011 Nov 18.
3
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.
4
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.母体核黄素缺乏导致短暂性新生儿发作的戊二酸尿症 2 型,是由于核黄素转运蛋白基因 GPR172B 的微缺失引起的。
Hum Mutat. 2011 Jan;32(1):E1976-84. doi: 10.1002/humu.21399.
5
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.Brown-Vialetto-Van Laere 综合征,一种伴有耳聋的球部-假性球部麻痹,是由 c20orf54 基因突变引起的。
Am J Hum Genet. 2010 Mar 12;86(3):485-9. doi: 10.1016/j.ajhg.2010.02.006. Epub 2010 Mar 4.
6
Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease.布朗-维阿莱托-范莱尔综合征;发病年龄和疾病进展的变异性凸显了其与法齐奥-隆德病的表型重叠。
Brain Dev. 2005 Sep;27(6):443-6. doi: 10.1016/j.braindev.2004.10.003. Epub 2004 Dec 15.
7
C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.C6 - C10 - 二羧酸尿症:一名对核黄素反应性多种酰基辅酶A脱氢酶缺陷患者的研究
Pediatr Res. 1982 Oct;16(10):861-8. doi: 10.1203/00006450-198210000-00012.
8
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset.成人早期发病的核黄素反应性脂质贮积性肌病和II型戊二酸尿症。
Neurology. 1986 Mar;36(3):367-72. doi: 10.1212/wnl.36.3.367.
9
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.多种酰基辅酶A脱氢酶缺乏症,即II型戊二酸尿症和乙基丙二酸-己二酸尿症。成纤维细胞中的线粒体脂肪酸氧化、酰基辅酶A脱氢酶及电子传递黄素蛋白活性。
J Clin Invest. 1986 Jul;78(1):205-13. doi: 10.1172/JCI112553.
10
Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.核黄素治疗后,一名患有多种酰基辅酶A脱氢酶缺乏性肌病的女孩的短链酰基辅酶A脱氢酶恢复正常。
Ann Neurol. 1989 May;25(5):479-84. doi: 10.1002/ana.410250510.