Associated Papers
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan.
Odagiri S et al.
International Journal of Neonatal Screening, 2021
Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test.
Tolve M et al.
Methods and Protocols, 2018
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Blau N et al.
Molecular Genetics and Metabolism, 2004
Long-term treatment and diagnosis of tetrahydrobiopterin-responsive hyperphenylalaninemia with a mutant phenylalanine hydroxylase gene.
Shintaku H et al.
Pediatric Research, 2004
The molecular basis of phenylketonuria in Koreans.
Lee DH et al.
Journal of Human Genetics, 2004
In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
Waters PJ et al.
Human Mutation, 1998
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