𝔖 Bobbio Scriptorium
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Early diagnosis of hyperphenylalaninemia due to tetrahydrobiopterin deficiency (malignant hyperphenylalaninemia)

✍ Scribed by David M. Danks; Richard G.H. Cotton


Book ID
119458351
Publisher
Elsevier Science
Year
1980
Tongue
English
Weight
225 KB
Volume
96
Category
Article
ISSN
1097-6833

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πŸ“œ SIMILAR VOLUMES


Hyperphenylalaninemia due to deficiency
✍ C. R. Scriver; C. L. Clow; P. Kaplan; A. Niederwieser πŸ“‚ Article πŸ“… 1987 πŸ› Springer 🌐 English βš– 461 KB

We have identified deficient biopterin synthesis in four probands and one sib with persistent postnatal hyperphenylalaninemia. The metabolic findings were associated with a benign clinical presentation and normal biopterin level in cerebrospinal fluid in the newborn period, indicating the peripheral