MTHFR deficiency: A potentially treatable cause of adult-onset hereditary spastic paraparesis
Author:
Publisher
Medknow
Subject
Neurology (clinical)
Reference10 articles.
1. Saudubray J-M, Baumgartner M, Walter J, editors. Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Berlin Heidelberg: Springer-Verlag; 2016.
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3. Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman;Michot;J Neurol Neurosurg Psychiatry,2008
4. Severe methylenetetrahydrofolate reductase deficiency: Clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia;Lossos;JAMA Neurol,2014
5. Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy;D'Aco;Pediatr Neurol,2014
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1. Doubly bi-allelic variants of MTHFR and MTHFD1 in a Chinese patient with hyperhomocysteinemia and failure of folic acid therapy;Frontiers in Genetics;2023-01-04
2. The hereditary spastic paraplegias;Handbook of Clinical Neurology;2023
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