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Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

✍ Scribed by M. R. Zurflüh; L. Fiori; B. Fiege; I. Ozen; M. Demirkol; K. H. Gärtner; B. Thöny; M. Giovannini; N. Blau


Publisher
Springer
Year
2006
Tongue
English
Weight
403 KB
Volume
29
Category
Article
ISSN
0141-8955

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✍ Christa Aulehla-Scholz; Helmut Heilbronner 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB

We report on the spectrum and frequency of mutations in the phenylalanine hydroxylase (PAH) gene in 226 German families with PAH deficiency, most of them from Southern Germany. A total of 88 mutations were identified in 428 out of 438 mutant PAH alleles including one novel stop mutation L293X (c.878