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- W2327366926 abstract "Homocystinuria and homocystinemia without hypermthioninemia, but with reccurent episodes of folate responseive schizophrenic-like behavior, was documented in a mildly retarded adolescent girl who lacked the habitus associated with cystathionine synthase deficiency. Enzymes involved in homocysteine-methionine metabolism were demonstrated to be normal. A defect in the ability to reducte N-5-10--methylenetetrahydrofolate to 5-methyltetrahydrofolate was demonstrated. Methylenetetrahydrofolate reductase was 18 per cent of control values. Methyltetrahydrofolate is used for the methylation of homocysteine to methionine, and a deficiency of this compound could explain the homocystinemia and homocystinuria." @default.
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- W2327366926 date "1975-03-06" @default.
- W2327366926 modified "2023-09-24" @default.
- W2327366926 title "Folate-Responsive Homocystinuria and “Schizophrenia”" @default.
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- W2327366926 doi "https://doi.org/10.1056/nejm197503062921001" @default.
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