LAUSR

About LAUSR
Donate
Contact Us

Follow us:

You are not signed in:

Sign Up!


   Articles with "pah gene" as a keyword



Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil

Sign Up to like & get
recommendations! 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
Photo from wikipedia

Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.

Sign Up to like & get
recommendations! 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 & get
recommendations! 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 & get
recommendations! 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 & get
recommendations! 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 & get
recommendations! 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 & get
recommendations! 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 & get
recommendations! 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

Spectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiency

Sign Up to like & get
recommendations! Published in 2025 at "Biomedical Reports"

DOI: 10.3892/br.2025.2029

Abstract: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by pathogenic variants in the phenylalanine hydroxylase (PAH) gene. PKU is considered as one of the most common autosomal recessive diseases in Jordan; however, the spectrum… read more here.

Keywords: gene variants; pah gene; jordanian patients; phenylalanine hydroxylase ... See more keywords

Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants

Sign Up to like & get
recommendations! Published in 2024 at "International Journal of Preventive Medicine"

DOI: 10.4103/ijpvm.ijpvm_50_23

Abstract: Background: There are more than 1100 different pathogenic variants in the phenylalanine hydroxylase (PAH) gene that are responsible for phenylketonuria (PKU) diseases, and the spectrum of these mutations varies in different ethnic groups. The aim… read more here.

Keywords: novel pathogenic; north iran; pah gene; three novel ... See more keywords

Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria

Sign Up to like & get
recommendations! 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