Associated Papers
Age-Dependent Variation in Blood Biopterin Peaks Following Oral Tetrahydrobiopterin Administration in Phenylketonuria.
Kitayama K et al.
Journal of Inherited Metabolic Disease, 2026
Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.
Zhu T et al.
Gene, 2013
Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.
Zhu T et al.
Pediatric Research, 2010
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR et al.
Human Mutation, 2008
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Zurflüh MR et al.
Molecular Genetics and Metabolism, 2005
[Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients].
Qiu WJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Acosta A et al.
Human Mutation, 2001
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Acosta AX et al.
Human Mutation, 2001
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