Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

Date
2011
Author
Baykal, Tolunay
Heintz, Caroline
Miller, Trent
Ellingson, Clinton
Ellingson, Clifford
Thoeny, Beat
Blau, Nenad
Goekcay, Gülden Fatma
Oezer, Isil
Demirkol, Muebeccel
Dobrowolski, Steven F.
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Abstract
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.
URI
http://hdl.handle.net/20.500.12627/113709
https://doi.org/10.1016/j.ymgme.2010.11.158
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