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Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies

✍ Scribed by Á. László; É. Á. Schuler; É. Sallay; E. Endreffy; Cs. Somogyi; Á. Várkonyi; Z. Havass; K. P. Jansen; B. Wolf


Book ID
111574678
Publisher
Springer
Year
2003
Tongue
English
Weight
60 KB
Volume
26
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