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

Dobrowolski, Steven; Heintz, Caroline; Miller, Trent; Ellingson, Clinton; Ellingson, Clifford; Oezer, Isil; Goekcay, GÜLDEN; Baykal, Tolunay; Thoeny, Beat; Demirkol, Muebeccel; Blau, Nenad

doi:10.1016/j.ymgme.2010.11.158

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, Scopus)

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.