Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference5 articles.
1. Cystathionine betasynthase and MTHFR deficiencies in adults;Cohen Aubart;Rev Neurol (Paris),2007
2. Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy;D’Aco;Pediatr Neurol,2014
3. Mutation update and review of severe MTHFR deficiency;Froese;Hum Mutat,2016
4. Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings;Tallur;Dev Med Child Neurol,2005
5. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency;Diekman;JAMA Neurol,2014
Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Clinical and molecular characterization of adult patients with late‐onset MTHFR deficiency;Journal of Inherited Metabolic Disease;2020-11-02
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