Combined tetrahydrobiopterin-phenylalani
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F. GΓΌttler; H. Lou; C. Lykkelund; A. Niederwieser
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Article
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1984
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Springer
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English
β 424 KB
Deficiency in the synthesis of biopterin causes neonatal hyperphenylalaninemia. We report a 10-year-old girl of normal appearance with a partial defect in biopterin synthesis, normal intelligence and normal serum phenylalanine levels (95gmol/1) (1.6mg/dl). During her 1st year of life serum phenylala