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

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.

Molecular genetics and metabolism - 1 Sept 2012

Quirk Meghan E, Dobrowolski Steven F, Nelson Benjamin E, Coffee Bradford, Singh Rani H

Abstract excerpt

BACKGROUND: A need exists to expand the characterization of tetrahydrobiopterin (BH(4)) responsiveness in patients with phenylketonuria (PKU), beyond simply evaluating change in blood phenylalanine concentrations. The clinical interpretation of BH(4) responsiveness should be evaluated within the context of phenylalanine hydroxylase (PAH) genotype. AIM: This investigation seeks to use a modified version of a...

Read the complete abstract on PubMed

Topics

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

Share to Biopterins
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Phenylalanine

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Prognosis

Share to Treatment Outcome

Source

Open in PubMed Open full text

Identifiers

PMID: 22841515
DOI: 10.1016/j.ymgme.2012.07.008
PMCID: PMC4029439

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.PMID 22841515Read ↗

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.Semantic proximity Read ↗

START, a double blind, placebo-controlled pharmacogenetic test of responsiveness to sapropterin dihydrochloride in phenylketonuria patients.Semantic proximity Read ↗

Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.Semantic proximity Read ↗

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

Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.Semantic proximity Read ↗

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

Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.Semantic proximity Read ↗

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.Semantic proximity Read ↗

Response of patients with phenylketonuria in the US to tetrahydrobiopterin.Semantic proximity Read ↗

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness.Semantic proximity Read ↗

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients.Semantic proximity Read ↗

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

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