Associated Papers
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
Zhang X et al.
Gene, 2019
In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Trunzo R et al.
Gene, 2016
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation.
Shen N et al.
Molecular Genetics and Metabolism, 2016
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