Molecular genetics and metabolism, cilt.102, sa.2, ss.116-21, 2011 (SCI-Expanded)
Background: The prevalence of phenylalanine hydroxylase (PAH)-deficient phenylketonuria (PKU) in Turkey is high (1 in 6500 births), but data concerning the genotype distribution and impact of the genotype on tetrahydrobiopterin (BH4) therapy are scarce.