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Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates

โœ Scribed by L.J.M. Spaapen; J.A. Bakker; C. Velter; W. Loots; M.E. Rubio-Gonzalbo; P.P. Forget; L. Dorland; T.J. De Koning; B.T. Poll-The; H.K. Ploos Van Amstel; J. Bekhof; N. Blau; M. Duran

Book ID
110292297
Publisher
Springer
Year
2001
Tongue
English
Weight
73 KB
Volume
24
Category
Article
ISSN
0141-8955

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## Communicated by Ronald J.A. Wanders Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH 4 )-responsive hyperphenylalaninemia has been recently described as a variant of PAH deficiency caused by specific mutations in the PAH gene. It has