Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular biology reports"
DOI: 10.1007/s11033-021-06163-w
Abstract: Phenylketonuria (PKU) is an autosomal recessive amino acid metabolism disorder caused by variants in the gene encoding phenylalanine hydroxylase (PAH; EC1.14.16.1). This study aimed to assess the specific heterogeneity of PAH variants found in Thai… read more here.
Keywords: pah variants; two novel; phenylalanine hydroxylase; thai patients ... See more keywords
In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.05.029
Abstract: Phenylketonuria (PKU), caused by phenylalanine hydroxylase (PAH) gene variants, is a common autosomal inherited metabolic disease. So far, 1111 PAH variants have been revealed. The residual activity of the PAH variants is the key determinant… read more here.
Keywords: phenotype; residual activities; pah variants; phenylalanine hydroxylase ... See more keywords
Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.
Sign Up to like & getrecommendations! Published in 2023 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0218
Abstract: Background: Deleterious mutations in the human gene phenylalanine hydroxylase (PAH) encoding the phenylalanine hydroxylase enzyme give rise to classic phenylketonuria and hyperphenylalaninemia. Our study was designed to characterize the spectrum of variants in the PAH… read more here.
Keywords: phenylalanine hydroxylase; saudi arabia; hydroxylase; pah variants ... See more keywords