Article

Genetic Landscape of Phenylketonuria in Brazil

2026-04-19

Abstract excerpt

<title>Abstract</title> <p> Phenylketonuria (PKU), one of the most common inherited metabolic disorders, is caused by biallelic loss-of-function variants in the <italic>phenylalanine hydroxylase</italic> ( <italic>PAH</italic> ) gene. More than 1000 pathogenic variants have been described in this gene. Although genotype-phenotype correlations are imperfect, <italic>PAH</italic> genotypes can influence trea...

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Literature Corpus work: 6516de01-6525-56c7-b65a-84f4e4b75845
DOI: 10.21203/rs.3.rs-8620289/v1

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