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Article

Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China.

Scandinavian journal of clinical and laboratory investigation - 1 Dec 2020

Zhao Zhendong, Liu Xiulian, Huang Cidan, Xu Haizhu, Fu Chaohui

Abstract excerpt

OBJECTIVE: To investigate the incidence of phenylalanine hydroxylase (PAH) deficiency and PAH genotypes in neonates in Hainan, China. Methods: We performed heal stick to collect blood and obtain dry blood spot specimens from newborns in Hainan from January 2007 to December 2016. Phenylalanine (Phe) concentration in these dry blood spots was measured by the fluorescence method to screen phenylketonuria (PKU). For...

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Identifiers

PMID: 33161754
DOI: 10.1080/00365513.2020.1827287

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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