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


Dobrowolski S. F. , Heintz C., Miller T., Ellingson C., Ellingson C., Oezer I., ...Daha Fazla

Molecular genetics and metabolism, cilt.102, ss.116-21, 2011 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 102 Konu: 2
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1016/j.ymgme.2010.11.158
  • Dergi Adı: Molecular genetics and metabolism
  • Sayfa Sayıları: ss.116-21

Özet

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.