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Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy.

作者信息

Senthilvelan Santhakumar, Kandasamy Sathish, Menon Ramshekhar N, Nampoothiri Sheela, Ramachandran Harikrishnan, Thomas Bejoy, Kesavadas Chandrasekharan

机构信息

Neuroradiology Division, Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India.

出版信息

Clin Neuroradiol. 2021 Mar;31(1):277-281. doi: 10.1007/s00062-020-00947-6. Epub 2020 Sep 3.

DOI:10.1007/s00062-020-00947-6
PMID:32880657
Abstract
摘要

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Reversible leukoencephalopathy and cerebral atrophy in homocystinuria due to MTHFR deficiency: A treatable metabolic disorder.因亚甲基四氢叶酸还原酶（MTHFR）缺乏导致的同型胱氨酸尿症中的可逆性白质脑病和脑萎缩：一种可治疗的代谢紊乱疾病。
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Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.亚甲基四氢叶酸还原酶缺乏患者因感染引发的快速进展性精神病症状：一例报告
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Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult.局灶性癫痫作为一名年轻成人5,10-亚甲基四氢叶酸还原酶缺乏症的首发症状
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[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].[由亚甲基四氢叶酸还原酶缺乏引起的以后部为主的白质脑病并成功用叶酸治疗]
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引用本文的文献

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Clin Genet. 2021 Nov;100(5):542-550. doi: 10.1111/cge.14037. Epub 2021 Jul 30.

本文引用的文献

1
MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency.亚甲基四氢叶酸还原酶缺乏所致高同型半胱氨酸血症患者脑部的磁共振成像及质子磁共振波谱分析
AJNR Am J Neuroradiol. 1997 Mar;18(3):536-9.
2
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.亚甲基四氢叶酸还原酶（MTHFR）基因顺式的严重和轻度突变，以及MTHFR五个新突变的描述。
Am J Hum Genet. 1996 Dec;59(6):1268-75.