Article
Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Molecular genetics and metabolism - 1 Sept 2018
Himmelreich Nastassja, Shen Nan, Okun Jürgen G, Thiel Christian, Hoffmann Georg F, Blau Nenad
Abstract excerpt
Residual phenylalanine hydroxylase (PAH) activity is the main determinant of the metabolic phenotype in phenylketonuria (PKU). The genotypic heterogeneity of PKU, involving >1000 PAH variants and over 2500 different genotypes, makes genotype-based phenotype prediction challenging. While a relationship between PAH variants and the metabolic phenotype is well established, we questioned the importance of PAH...
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