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

Genetics of Phenylketonuria: Then and Now.

Human mutation - 1 Jun 2016

Blau Nenad

Abstract excerpt

More than 950 phenylalanine hydroxylase (PAH) gene variants have been identified in people with phenylketonuria (PKU). These vary in their consequences for the residual level of PAH activity, from having little or no effect to abolishing PAH activity completely. Advances in genotyping technology and the availability of locus-specific and genotype databases have greatly expanded our understanding of the...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Phenotype
Share to History, 20th Century

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to History, 21st Century

Share to Biopterins

Share to PAH gene

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Source

Identifiers

PMID: 26919687
DOI: 10.1002/humu.22980

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetics of Phenylketonuria: Then and Now.PMID 26919687Read ↗

The Genetic Landscape and Epidemiology of Phenylketonuria.Semantic proximity Read ↗

Genotype-Phenotype Correlations in Phenylketonuria and Hyperphenylalaninemia: A Single-Center Study.Semantic proximity Read ↗

Molecular genetics and diagnosis of phenylketonuria: state of the art.Semantic proximity Read ↗

Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.Semantic proximity Read ↗

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.Semantic proximity Read ↗

An Updated PAH Mutational Spectrum of Phenylketonuria in Mexican Patients Attending a Single Center: Biochemical, Clinical-Genotyping Correlations.Semantic proximity Read ↗

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.Semantic proximity Read ↗

Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria.Semantic proximity Read ↗

Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria.Semantic proximity Read ↗

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

Mutational landscape of phenylketonuria in Iran.Semantic proximity Read ↗

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