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Article

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

Orphanet journal of rare diseases - 25 Nov 2025

Wang Qiong, Duan Jiang, Zhao Xiaolong, Qi Zhiye

Abstract excerpt

BACKGROUND: The global incidence of Hyperphenylalaninemia (HPA) demonstrates significant geographical variations, exhibiting distinct regional and ethnic characteristics in both phenotypic manifestations and genotypic profiles. To date, there remains a paucity of data regarding the genotype-phenotype correlation in pediatric patients with phenylalanine hydroxylase deficiency (PAHD) from Southwest China. This...

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Source

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Identifiers

PMID: 41291872
DOI: 10.1186/s13023-025-04114-3
PMCID: PMC12648792

Genes

PAH
PTS
QDPR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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