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Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency

✍ Scribed by J. Zschocke; E. Mayatepek


Book ID
110226804
Publisher
Springer
Year
2000
Tongue
English
Weight
53 KB
Volume
23
Category
Article
ISSN
0141-8955

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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