Article
Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.
Molecular genetics & genomic medicine - 1 Oct 2023
Bonfim-Freitas Pedro E, Andrade Roseani S, Ribeiro-Dos-Santos Ândrea K, Silva Luiz C Santana-da
Abstract excerpt
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease resulting from a deficiency of the enzyme phenylalanine hydroxylase (PAH). Hyperphenylalaninemias (HPA) due to PAH deficiency are accompanied by a wide variety of clinical, biochemical, and molecular features. To identify and characterize pathogenic variants in the PAH gene and establish a correlation between genotype and biochemical phenotype in...
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