To date more than 1000 different variants in the PAH gene have been identified in patients
with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the …

A delicate intracellular balance among protein synthesis, folding, and degradation is
essential to maintaining protein homeostasis or proteostasis, and it is challenged by genetic …

Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of
phenylketonuria (PKU). Furthermore, numerous studies on BH4-sensitive PAH deficiency …

Phenylketonuria (PKU)‐associated DNA mutation in newborn children can be harmful to his
health and early detection is the best way to inhibit consequences. A novel electrochemical …

Background Phenylketonuria (PKU) is a common metabolic disorder with great burden if left
untreated or undiagnosed. Genetic variations in the phenylalanine hydroxylase (PAH) gene …

Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The
present study aimed to investigate the status of molecular defects in phenylalanine …

Background: Phenylketonuria as the most common genetic metabolic disorder is the result
of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore …

Background Phenylketonuria (PKU) is an autosomal recessive disease resulting from
mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype …

A fenilcetonúria é uma doença genética e metabólica, com bom prognóstico caso seja
detectada e tratada precocemente. É a mais frequente entre os distúrbios metabólicos com …

As one of the highest prevalence rates in the world, the prevalence of Phenylketonuria
(PKU) in Iran has been estimated at 16.5 per 100,000 neonates. The objective of this study …