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Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design

Meryem Karaca1,2, Asuman Gedikbasi3, Arzu Selamioğlu4,5

  • 1Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Turgut Özal Millet street Fatih, 34093, Istanbul, Türkiye. meryem.karaca@istanbul.edu.tr.

Human Genomics
|February 21, 2026
PubMed
Abstract

No abstract available in PubMed .

Keywords:
PAH geneBH4 loading testBH4 treatmentMLPANewborn screeningPhenylketonuria

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