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Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency

โœ Scribed by M. Lindner; R. Steinfeld; P. Burgard; A. Schulze; E. Mayatepek; J. Zschocke


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
28 KB
Volume
21
Category
Article
ISSN
1059-7794

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The spectrum of phenylalanine hydroxylase (PAH) gene mutations was determined in 25 families of hyperphenylalaninemia identified by a neonatal screening program in Taiwan. The coding sequence and exon-flanking intron sequences of PAH gene were amplified and sequenced. Mutations were identified in fo