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

Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population.

Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2022

Lin Yiming, Lin Weihua, Su Run, Zheng Zhenzhu, Fu Qingliu, Wang Gaoxiong

Abstract excerpt

BACKGROUND AND AIMS: Hyperphenylalaninemia (HPA) is the most common congenital amino acid metabolism-related defect, but its incidence differs substantially between northern and southern China. We aimed to elucidate the incidence, proportion, and genetic features of HPA in a southern Chinese population. MATERIALS AND METHODS: We analyzed the HPA screening results for 580,460 newborns from 2014 to 2021. RESULTS:...

Read the complete abstract on PubMed

Topics

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

Share to Biopterins
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Infant, Newborn

Share to Neonatal Screening

Share to Phenylalanine Hydroxylase

Share to Phenylketonurias

Source

Identifiers

PMID: 35952926
DOI: 10.1016/j.cca.2022.08.009

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Newborn screening and genetic features of patients with hyperphenylalaninemia in a southern Chinese population.PMID 35952926Read ↗

The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China.Semantic proximity Read ↗

Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City.Semantic proximity Read ↗

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.Semantic proximity Read ↗

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

Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese populationSemantic proximity Read ↗

Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening.Semantic proximity Read ↗

Genotypic and phenotypic characteristics of Turkish patients with phenylalanine metabolism disorders.Semantic proximity Read ↗

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.Semantic proximity Read ↗

Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients.Semantic proximity Read ↗

Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China.Semantic proximity Read ↗

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.Semantic proximity Read ↗

A Comprehensive Study of Disease-Causing Variants in PAH, QDPR, PTS, and PCD Genes in Iranian Patients with Hyperphenylalaninemia: A Systematic Review.Semantic proximity Read ↗

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