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[Screening of phenylketonuria and analysis of phenylalanine hydroxylase gene in 380 996 newborns from Hainan province].

Zhonghua yi xue za zhi - 14 Jul 2020

Zhao Z D, Huang C D, Xu H Z, Fu C H

Abstract excerpt

Objective: To investigate the incidence of phenylketonuria and distribution characteristics of phenylalanine hydroxylase (PAH) gene in newborns from Hainan province. Methods: Dry blood spot specimens of heels from 380 996 newborns in Hainan province from January 2017 to December 2019 were collected. Phenylalanine (Phe) concentrations in these dry blood spots were measured by the fluorescence method to screen...

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PMID: 32654453
DOI: 10.3760/cma.j.cn112137-20200120-00134

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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