Associated Papers
Genotype-phenotype correlations in phenylketonuria: PAH variants and BH4 responsiveness for treatment design.
Karaca M et al.
Human Genomics, 2026
DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.
Çıkı K et al.
Metabolic Brain Disease, 2021
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