Phenylketonuria (PKU) is heterogeneous. More than 400 different mutations in the
phenylalanine hydroxylase (PAH) gene have been identified. In a systematic review of the …

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 …

Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is
caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide …

Phenylketonuria (PKU) is a metabolic disorder caused by mutations in the phenylalanine
hydroxylase (PAH) gene. After thalassemia, PKU is considered as the most common …

BACKGROUND: The prevalence of bipolar spectrum disorders in the community is under
debate and the prescription of antidepressant drugs (ADs) in bipolar depression appears to …

The R408W phenylketonuria mutation in Europe has arisen by recurrent mutation in the
human phenylalanine hydroxylase (PAH) locus and is associated with two major PAH …

Hyperphenylalaninemia (Online Mendelian Inheritance in Man® database: 261600) is an
autosomal recessive disorder mainly due to mutations in the gene for phenylalanine …

Hyperphenylalaninemia (HPA) comprises a group of autosomal recessive disorders mainly
caused by phenylalanine hydroxylase (PAH) gene mutations. We investigated PAH …

Phenylketonuria (PKU) is caused by mutations in the gene encoding phenylalanine
hydroxylase (PAH) enzyme. Here, we report the updated spectrum of PAH mutations in 61 …

摘! 要! 苯丙酮尿症是由于苯丙氨酸羟化酶基因突变引起的常染色体隐性遗传病%
文章综述了苯丙酮尿症中的苯丙氨酸羟化酶基因的定位'结构'突变'调控以及突变基因的体外表达 …