dc.contributor.author | Baykal, Tolunay | |
dc.contributor.author | Heintz, Caroline | |
dc.contributor.author | Miller, Trent | |
dc.contributor.author | Ellingson, Clinton | |
dc.contributor.author | Ellingson, Clifford | |
dc.contributor.author | Thoeny, Beat | |
dc.contributor.author | Blau, Nenad | |
dc.contributor.author | Goekcay, Gülden Fatma | |
dc.contributor.author | Oezer, Isil | |
dc.contributor.author | Demirkol, Muebeccel | |
dc.contributor.author | Dobrowolski, Steven F. | |
dc.date.accessioned | 2021-03-05T11:52:03Z | |
dc.date.available | 2021-03-05T11:52:03Z | |
dc.date.issued | 2011 | |
dc.identifier.citation | Dobrowolski S. F. , Heintz C., Miller T., Ellingson C., Ellingson C., Oezer I., Goekcay G. F. , Baykal T., Thoeny B., Demirkol M., et al., "Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.", Molecular genetics and metabolism, cilt.102, ss.116-21, 2011 | |
dc.identifier.issn | 1096-7192 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_aa4a0909-2e6b-47a6-9e23-b1fa3bebca23 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/113709 | |
dc.identifier.uri | https://doi.org/10.1016/j.ymgme.2010.11.158 | |
dc.description.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. | |
dc.language.iso | eng | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | İç Hastalıkları | |
dc.subject | Endokrinoloji ve Metabolizma Hastalıkları | |
dc.subject | Tıbbi Genetik | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | ENDOKRİNOLOJİ VE METABOLİZMA | |
dc.title | Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. | |
dc.type | Makale | |
dc.relation.journal | Molecular genetics and metabolism | |
dc.contributor.department | İstanbul Üniversitesi , , | |
dc.identifier.volume | 102 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 116 | |
dc.identifier.endpage | 21 | |
dc.contributor.firstauthorID | 199439 | |