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Article

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province.

Brain & development - 1 Feb 2021

Tao Yilun, Han Dong, Shen Huiyi, Li Xiaoze

Abstract excerpt

BACKGROUND: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive inborn error that affects phenylalanine (Phe) metabolism. It has a complex phenotype with many variants and genotypes among different populations. Shanxi province is a high-prevalence area of PAHD in China. METHODS: In this study, eighty-nine PAHD patients were subjected to genetic testing using Sanger sequencing, followed by...

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Identifiers

PMID: 32893076
DOI: 10.1016/j.braindev.2020.08.012

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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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