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Follow-up in a child with 5,10-methylenetetrahydrofolate reductase deficiency

✍ Scribed by Jean-Paul Harpey; Giséle Le Moël; Jacqueline Zittoun


Book ID
119460475
Publisher
Elsevier Science
Year
1983
Tongue
English
Weight
100 KB
Volume
103
Category
Article
ISSN
1097-6833

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In a 3-year-old mentally retarded girl with homocystinuria due to 5,10methylenetetrahydrofolate reductase deficiency among different therapeutic approaches only treatment with betaine (15-20g/day) resulted in a satisfactory biochemical response. Betaine improved homocysteine remethylation and thus l