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Article

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

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 7 Dec 2023

Sun Meng, Li Yulin, Li Panpan, Li Gaijie, Yan Yan, Zou Hui

Abstract excerpt

OBJECTIVES: To retrospectively analyze the variation and characteristics of phenylalanine hydroxylase (PAH) gene, and to observe the long-term treatment effect and follow-up of newborns with PAH deficiency. METHODS: Clinical data, treatment and follow-up results of 198 patients with PAH deficiency diagnosed by newborn screening in Jinan from 1996 to 2021 were collected. The genetic analysis of 55 patients with...

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Identifiers

PMID: 38105703
DOI: 10.3724/zdxbyxb-2023-0450
PMCID: PMC10764183

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.

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