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
β¦ LIBER β¦
Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency
β Scribed by Morrone, A. ;Malvagia, S. ;Donati, M.A. ;Funghini, S. ;Ciani, F. ;Pela, I. ;Boneh, A. ;Peters, H. ;Pasquini, E. ;Zammarchi, E.
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 222 KB
- Volume
- 111
- Category
- Article
- ISSN
- 0148-7299
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