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

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.

Metabolism: clinical and experimental - 1 May 2010

Ponzone Alberto, Porta Francesco, Mussa Alessandro, Alluto Alessandra, Ferraris Silvio, Spada Marco

Abstract excerpt

Conflicting results have been reported concerning the efficacy of tetrahydrobiopterin (BH4), the cofactor of phenylalanine hydroxylase, for reducing phenylalanine (Phe) concentration in phenylketonuria (PKU). We aimed to test quantitatively the effects of BH4 in PKU patients. Seven fully characte...

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, Preschool
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenylalanine

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Statistics, Nonparametric

Share to Tyrosine

Source

Identifiers

PMID: 19913839
DOI: 10.1016/j.metabol.2009.09.008

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19913839-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.PMID 19913839Read ↗

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.Semantic proximity Read ↗

Tetrahydrobiopterin responsiveness: results of the BH4 loading test in 31 Spanish PKU patients and correlation with their genotype.Semantic proximity Read ↗

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

Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

Effect of BH(4) supplementation on phenylalanine tolerance.Semantic proximity Read ↗

The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment.Semantic proximity Read ↗

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.Semantic proximity Read ↗

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: evolution of seven patients on long-term treatment with tetrahydrobiopterin.Semantic proximity Read ↗

Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.Semantic proximity Read ↗

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

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria.Semantic proximity Read ↗

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