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Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

✍ Scribed by A. Ponzone; O. Guardamagna; M. Spada; S. Ferraris; R. Ponzone; L. Kierat; N. Blau


Publisher
Springer
Year
1993
Tongue
English
Weight
649 KB
Volume
152
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