Brazilians are highly admixed with ancestry from Europe, Africa, America, and Asia and yet
still underrepresented in genomic databanks. We hereby present a collection of exomic …

Phenylketonuria (PKU) is a genetic disease caused by mutations in human phenylalanine
hydroxylase (PAH). Most missense mutations result in misfolding of PAH, increased protein …

Phenylketonuria (PKU) is one of the few genetic diseases in which mental retardation can
be prevented. Hence, diagnosis and treatment must be established early. PKU treatment …

Phenylketonuria (PKU) is an autosomal recessive disease which results from mutations in
the phenylalanine hydroxylase (PAH) gene. The aim of this study was the identification of …

Background Hyperphenylalaninemia (HPA) is an inherited metabolic disorder that is caused
by a deficiency of phenylalanine hydroxylase (PAH) or tetrahydrobiopterin. The prevalence …

Establishing the genotypes of patients with hyperphenylalaninemia (HPA)/phenylketonuria
(PKU, MIM# 261600) has been considered a cornerstone for rational medical management …

Phenylalanine hydroxylase deficiency is a trait inherited in an autosomal recessive pattern;
the associated phenotype varies considerably. This variation is mainly due to the …

Background The value of genotyping to predict variant phenotypes in patients with
phenylalanine hydroxylase (Pah) deficiency is a matter of debate. However, there exists no …

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

BACKGROUND: Phenylketonuria (PKU) is an inborn error of amino acid metabolism that
results from a deficiency of phenylalanine hydroxylase (PAH). According to PAH database …