Clinical findings of patients with cystic fibrosis according to newborn screening results.
Tugba Ramasli GursoyTana Aslan AyşePelin AsfurogluTugba Sismanlar EyubogluErkan CakirNazan CobanogluSevgi PekcanGuzin CinelDeniz DogruUgur OzcelikEbru YalcinVelat SenOmur ErcanAyse Ayzit KilincHakan YazanDerya Ufuk AltintasGökçen Kartal ÖztürkAysen BingolNihat SapanEbru CelebiogluGokcen Dilsa TugcuAli OzdemirKoray HarmanciMehmet KöseNagehan EmiraliogluZeynep TamayHasan YukselGizem OzcanErdem TopalDemet CanPervin Korkmaz EkrenGonul CaltepeMehmet KilicŞebnem ÖzdoğanPublished in: Pediatrics international : official journal of the Japan Pediatric Society (2021)
Frequency of growth retardation and chronic S. aureus infection can be reduced with an early diagnosis with NBS. In the presence of clinical suspicion in patients with normal NBS, further analyses such as genetic testing should be performed, especially to prevent missing patients with severe mutations.