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Combined phenylalanine-tetrahydrobiopterin loading test in GTP cyclohydrolase 1 deficiency

✍ Scribed by A. Ponzone; S. Ferraris; M. Spada; N. Blau; S. Piovan; A. B. Burlina


Publisher
Springer
Year
1994
Tongue
English
Weight
132 KB
Volume
153
Category
Article
ISSN
0340-6997

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Combined tetrahydrobiopterin-phenylalani
✍ F. GΓΌttler; H. Lou; C. Lykkelund; A. Niederwieser πŸ“‚ Article πŸ“… 1984 πŸ› Springer 🌐 English βš– 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