Article
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Molecular genetics and metabolism - 1 Feb 2011
Dobrowolski Steven F, Heintz Caroline, Miller Trent, Ellingson Clinton, Ellingson Clifford, Ozer Işıl, Gökçay Gulden, Baykal Tolunay, Thöny Beat, Demirkol Mübeccel, Blau Nenad
Abstract excerpt
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 (BH(4)) therapy are scarce. OBJECTIVE: To characterize the phenotypic and genotypic variability in the Turkish PKU population and to correlate it with physiological response to BH(4)...
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