Methylenetetrahydrofolate reductase defi
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Arn, Pamela H.; Williams, Charles A.; Zori, Roberto T.; Driscoll, Daniel J.; Ros
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Article
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1998
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John Wiley and Sons
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English
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Deficiency of methylenetetrahydrofolate reductase (MTHFR) is associated with a variable phenotype that includes mental retardation, gait abnormalities, and seizures. Many of the same clinical findings are also seen in patients with Angelman syndrome. We report on a patient with MTHFR deficiency who