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

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.

Pediatric research - 1 Dec 2015

Tao Jing, Li Nana, Jia Haitao, Liu Zhen, Li Xiaohong, Song Jiaping, Deng Ying, Jin Xi, Zhu Jun

Abstract excerpt

BACKGROUND: A growing body of research has suggested that tetrahydrobiopterin (BH4) responsive phenotype can be predicted by the phenylalanine hydroxylase (PAH) genotype in patients with phenylketonuria (PKU), but data concerning the association between genotype and BH4 responsiveness are scarce in China. METHODS: A total of 165 PKU patients from China who had undergone a 24-h loading test with BH4 administration...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Biopterins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Gene Frequency

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Share to Predictive Value of Tests

Source

Open in PubMed Open full text

Identifiers

PMID: 26322415
DOI: 10.1038/pr.2015.167
PMCID: PMC4700046

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

Correlation between genotype and the tetrahydrobiopterin-responsive phenotype in Chinese patients with phenylketonuria.PMID 26322415Read ↗

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

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

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

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

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

Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes.Semantic proximity Read ↗

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.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: PAH variants and BH4 responsiveness for treatment design.Semantic proximity Read ↗

Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.Semantic proximity Read ↗

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.Semantic proximity Read ↗

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.Semantic proximity Read ↗

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