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
33803550 (PubMed )
Supplement: IJNS-07-00017-s001.zip › IJNS-1138821-supplementary.xlsx › ___370_____
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
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