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Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: A familial study

✍ Scribed by C. Tonetti; J. Amiel; A. Munnich; J. Zittoun


Book ID
110326276
Publisher
Springer
Year
2001
Tongue
English
Weight
91 KB
Volume
24
Category
Article
ISSN
0141-8955

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Methylenetetrahydrofolate reductase defi
✍ Tonetti, Carole; Burtscher, Alain; Bories, Dominique; Tulliez, Michel; Zittoun, πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 21 KB πŸ‘ 2 views

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