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Phenylalanine hydroxylase deficiency in south Italy: Genotype–phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness

Genetic DisorderMedicineGeneticsInherited Metabolic DiseaseGenetic EpidemiologyMolecular BiologyPhenylalanine Hydroxylase DeficiencySouth ItalyBh4 Responsiveness