Article

Mediterranean PAH Stratification in Phenylketonuria: Tracing Historical Maps to Point Toward Clinical Phenotype and Metabolic Risk

2026-06-05

Abstract excerpt

<h4>Background: </h4> Apulia and neighboring Southern Italian regions present a complex genetic stratification shaped by historical migrations. Phenylketonuria (PKU), caused by PAH mutations, serves as an excellent model for molecular epidemiology. This study maps the geographical distribution of PAH variants in a large Southern Italian cohort, evaluating their correlation with clinical phenotypes and long-term Bo...

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Literature Corpus work: af70314c-639f-531b-a8c3-c46bec2589a8
DOI: 10.20944/preprints202606.0460.v1

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