Methylenetetrahydrofolate reductase defi
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Tonetti, Carole; Burtscher, Alain; Bories, Dominique; Tulliez, Michel; Zittoun,
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Article
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2000
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John Wiley and Sons
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English
β 21 KB
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A diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency was made in four sibs at different ages. The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomocysteinemia and hypomethioninemia were found asso