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Severe Methylenetetrahydrofolate Reductase Deficiency

5 May 2014

Abstract excerpt

IMPORTANCE: Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinical phenotypes. No treatment is available for these disorders. We identified 2 unrelated families, each with 2 siblings with severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of adult-onset hereditary spastic paraparesis partially responsive...

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PMID: 24797679
DOI: 10.1001/jamaneurol.2014.116

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