Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.

Genetic testing and molecular biomarkers - 1 May 2023

Balobaid Ameera, Imtiaz Faiqa, Ramzan Khushnooda, Afzal Sibtain, AlSayed Moeenaldeen

Abstract excerpt

Background: Deleterious mutations in the human gene phenylalanine hydroxylase (PAH) encoding the phenylalanine hydroxylase enzyme give rise to classic phenylketonuria and hyperphenylalaninemia. Our study was designed to characterize the spectrum of variants in the PAH gene in Saudi patients. Materials and Methods: We screened a cohort of 72 Saudi patients with clinical and biochemical diagnoses of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Genotype
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Pregnancy

Share to Saudi Arabia

Source

Identifiers

PMID: 37257178
DOI: 10.1089/gtmb.2022.0218

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia.PMID 37257178Read ↗

An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey.Semantic proximity Read ↗

Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran.Semantic proximity Read ↗

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

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.Semantic proximity Read ↗

Mutational landscape of phenylketonuria in Iran.Semantic proximity Read ↗

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.Semantic proximity Read ↗

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.Semantic proximity Read ↗

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, ChinaSemantic proximity Read ↗

PAH Pathogenic Variants and Clinical Correlations in a Group of Hyperphenylalaninemia Patients from North-Western RomaniaSemantic proximity Read ↗

Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.Semantic proximity Read ↗

The spectrum of PAH variants and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency in Inner Mongolia, ChinaSemantic proximity Read ↗

Molecular characterization of phenylketonuria patients from the North Region of Brazil: State of Pará.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.