Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.408
Abstract: Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More… read more here.
Keywords: analysis pah; gene phenylketonuria; rio janeiro; mutation analysis ... See more keywords
Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.
Sign Up to like & getrecommendations! Published in 2021 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00698-4
Abstract: 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 was to evaluate the spectrum… read more here.
Keywords: gene mutations; systematic review; gene; phenylketonuria ... See more keywords
Late-diagnosed phenylketonuria mimicking x-linked adrenoleukodystrophy with heterozygous mutations of the PAH Gene: A case report and literature review
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2018.06.009
Abstract: Phenylketonuria (PKU) is a prevalent inherited metabolic disorder caused by a phenylalanine hydroxylase (PAH) or tetrahydrobiopterin (BH4) deficiency, which leads to the accumulation of phenylalanine (PHE). High blood levels of PHE have a toxic effect… read more here.
Keywords: mimicking linked; linked adrenoleukodystrophy; late diagnosed; case ... See more keywords
The pathogenicity classification of PAH gene variants in the Iranian population.
Sign Up to like & getrecommendations! Published in 2022 at "Computational biology and chemistry"
DOI: 10.1016/j.compbiolchem.2022.107665
Abstract: Till now not many studies have been conducted to classify PAH gene variants according to American College of Medical Genetics and Genomics (ACMG-AMP) guidelines. The aim of this study was to collect all PAH gene… read more here.
Keywords: iranian population; acmg amp; amp guidelines; pah gene ... See more keywords
Three novel variants (p.Glu178Lys, p.Val245Met, p.Ser250Phe) of the phenylalanine hydroxylase (PAH) gene impair protein expression and function in vitro.
Sign Up to like & getrecommendations! Published in 2018 at "Gene"
DOI: 10.1016/j.gene.2018.03.078
Abstract: Phenylketonuria (PKU) is the most common inherited metabolic disease, an autosomal recessive disorder affecting >10,000 newborns each year globally. It can be caused by over 1000 different naturally occurring mutations in the phenylalanine hydroxylase (PAH)… read more here.
Keywords: three novel; expression; pah; gene ... See more keywords
Non-invasive prenatal testing of pregnancies at risk for phenylketonuria
Sign Up to like & getrecommendations! Published in 2018 at "Archives of Disease in Childhood: Fetal and Neonatal Edition"
DOI: 10.1136/archdischild-2017-313929
Abstract: Background Phenylketonuria (PKU) is a common metabolic disorder caused predominately by mutations in the phenylalanine hydroxylase (PAH) gene. The aim of the study was to design and validate the performance of a non-invasive prenatal test… read more here.
Keywords: invasive prenatal; prenatal testing; testing pregnancies; non invasive ... See more keywords
An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0556
Abstract: Abstract Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism, mostly caused by PAH gene variants. The aim of this study was to identify the frequency of PAH gene variants in Turkish population with… read more here.
Keywords: phenylalanine; population; pah gene; gene ... See more keywords
Spectrum of PAH gene mutations and genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0047
Abstract: Abstract Objectives The aim of our study was to define the genotype–phenotype correlations of mutations in the PAH gene among the Turkey’s Central Anatolian region. Methods Demographic characteristics of 108 patients with hyperphenylalaninemia (HPA) and… read more here.
Keywords: gene mutations; mutations genotype; genotype phenotype; pah gene ... See more keywords
Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria
Sign Up to like & getrecommendations! Published in 2022 at "Iranian Biomedical Journal"
DOI: 10.52547/ibj.3856
Abstract: Background: Phenylketonuria is a common inborn defect of amino acid metabolism in the world. This failure is caused by an autosomal recessive insufficiency of the hepatic enzyme PAH, which catalyzes the irreversible hydroxylation of phenylalanine… read more here.
Keywords: multiplex snapshot; pah gene; detection; snapshot minisequencing ... See more keywords