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, sa.2, ss.116-21, 2011 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 102 Sayı: 2
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1016/j.ymgme.2010.11.158
  • Dergi Adı: Molecular genetics and metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.116-21
  • Anahtar Kelimeler: Phenylketonuria, Sapropterin, Hyperphenylalaninemia, BH4, PKU, PAH, LONG-TERM TREATMENT, PHENYLKETONURIA MUTATIONS, SEPIAPTERIN REDUCTASE, HYPERPHENYLALANINEMIA, DIAGNOSIS
  • İstanbul Üniversitesi Adresli: Evet

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.