Article

The spectrum of PAH variants and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency in Inner Mongolia, China

2026-08-07

Abstract excerpt

<title>Abstract</title> <p>Background Phenylketonuria (PKU) is the most common inborn disorder of amino acid metabolism caused by biallelic pathogenic variants in the phenylalanine hydroxylase (PAH) gene. To date, there remains a paucity of data regarding the genotype-phenotype correlation in patients with PKU from Inner Mongolia. Methods Data on 492 patients diagnosed through neonatal screening or based on cli...

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Literature Corpus work: cdae14b5-f540-53f5-80ae-081fab3b9e04
DOI: 10.21203/rs.3.rs-10077214/v1

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