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Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency

Croatian PatientsMendelian DisorderBiochemistryGenetic DisorderGenotype-predicted TetrahydrobiopterinGeneticsInherited Metabolic DiseaseGenetic EpidemiologyHuman PolymorphismPhenylalanine HydroxylaseDisease Gene IdentificationMedicineClinical Genetics