161
1. Anabtawi A, Le T, Putman M, Tangpricha V, Bianchi ML. Cystic fibrosis bone disease: pathophysiology, assessment and prognostic implications. J Cyst Fibros. 2019;18(Suppl 2):S48-55.
2. Bombieri C, Claustres M, De Boeck K, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cyst Fibros. 2011;10(Suppl 2):S86–102. doi:10.1016/S1569-1993(11)60014-3.
3. Chen Q, Shen Y, Zheng J. A review of cystic fibrosis: basic and clinical aspects. Anim Models Exp Med. 2021;4(3):220–232. doi:10.1002/ame2.12174.
4. Collie JT, Massie RJ, Jones OA, LeGrys VA, Greaves RF. Reference intervals and biological variation for sweat chloride concentrations. Clin Biochem Rev. 2014;35(3):197–210.
5. Conese M, Di Gioia S. Pathophysiology of lung disease and wound repair in cystic fibrosis. Pathophysiology. 2021;28(1):155-188. doi:10.3390/pathophysiology28010011.
6. Crossley, J.R.; Elliott, R.B.; Smith, P.A. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1979;1,472–4.CLSI.
7. Cutting GR. Cystic fibrosis genetics: From molecular understanding to clinical application, Nat Rev Genet 2015; 16: 5).–56.
8. De Boeck K, Amaral MD. Progress in therapies for cystic fibrosis. Lancet Respir Med 2016; 4: 662–74.
9. Dickinson KM, Collaco JM. Cystic fibrosis. Pediatr Rev. 2021;42(2):55-67.2
10. Elborn JS. Cystic fibrosis. Lancet. 2016;388(10059):2519- 2531.
11. Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et al. Diagnosis of cystic fibrosis: Consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017;181(Suppl):S4–S15.e1.
12. Frayman KB, Chin M, Sawyer SM, Bell SC. Sexual and reproductive health in cystic fibrosis. Curr Opin Pulm Med. 2020;26(6):685-695.
13. Gibson RL, Burns JL, Ramsey BW. Pathophysiology and management of pulmonary infections in cystic fibrosis. Am J Respir Crit Care Med. 2003;168(8):918-951.
14. Gokdemir Y, Karadag BT. Sweat Testing and Recent Advances. Front Pediatr. 2021 May 4;9:649904. doi: 10.3389/fped.2021.649904. PMID: 34017807; PMCID: PMC8129525.
15. Gökdemir Y, Doğru Ersöz D, eds. Kistik Fibrozis Tanı ve Tedavi Rehberi .Ankara: Türk Toraks Derneği Yayınları; 2024.
16. Gökdemir Y, Eralp E, Ergenekon AP, Yılmaz Yeğit C, Yanaz M, Mursaloğlu H, et al. Improvements in body mass index of children with cystic fibrosis following implementation of a standardized nutritional algorithm: A quality improvement project. Pediatr Pulmonol. 2023;58(5):1463–1470. doi:10.1002/ppul.26344.
17. Granados A, Chan CL, Ode KL, Moheet A, Moran A, Holl R. Cystic fibrosis–related diabetes: Pathophysiology, screening and diagnosis. J Cyst Fibros. 2019;18(Suppl 2):S3-9.
18. Hamilos DL. Chronic rhinosinusitis in patients with cystic fibrosis. J Allergy Clin Immunol Pract. 2016;4(4):605–12.
19. https://hsgm.saglik.gov.tr/depo/birimler/cocuk_ergen_db/dokumanlar//KF_Akis_Semasi.pdf
20. https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/yenidogan_tarama_programi.htm
21. Kerem E. Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation- specific therapy. Pediatr Pulmonol. 2005;40(3):183- 196.
22. Kim JH, Lee Y, Choi Y, Kim GH, Yoo HW, Choi JH. Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center. BMC Pediatr. 2021;21(1):108.
23. Ledder O, Haller W, Couper RT, et al. Cystic fibrosis: an update for clinicians. Part 2: hepatobiliary and pancreatic manifestations. J Gastroenterol Hepatol 2014; 29: 1954-62.
24. Mall MA, Burgel PR, Castellani C, Davies JC, Elborn JS, Bell SC, et al. Cystic fibrosis. Nat Rev Dis Primers. 2024;10:53. doi:10.1038/s41572-024-00538-6
25. McGarry ME, Raraigh KS, Farrell P, Shropshire F, Padding K, White C, Dorley MC, Hicks S, Ren CL, Tullis K, et al. Cystic Fibrosis Newborn Screening: A Systematic Review-Driven Consensus Guideline from the United States Cystic Fibrosis Foundation. International Journal of Neonatal Screening. 2025; 11(2):24.
26. Moskowitz SM, Chmiel JF, Sternen DL, et al. Clinical practice and genetic counseling for cystic fibrosis and CFTR- related disorders. Genet Med. 2008;10(12):851- 868.
27. Munck A. Inconclusive diagnosis after newborn screening for cystic fibrosis. Int J Neonatal Screen. 2020;6(2):19. doi:10.3390/ijns6020019.
28. Pagin A, Sermet-Gaudelus I, Burgel PR. Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders. Arch Pediatr. 2020;27(Suppl 1):eS25–eS29. doi:10.1016/S0929-693X(20)30059-4.
29. Pillarisetti N, Williamson E, Linnane B, et al. Infection, inflammation, and lung function decline in infants with cystic fibrosis (AREST CF). Am J Respir Crit Care Med. 2011;184(1):75-81.
30. Ratjen F, Bell SC, Rowe SM, Goss CH, Quittner AL, Bush A. Cystic fibrosis. Nat Rev Dis Primers. 2015;1:15010. doi:10.1038/nrdp.2015.10
31. TC Sağlık Bakanlığı Kistik Fibrozis Yenidoğan Tarama Testi ile Tanı Alan Hastaları İzleme Rehberi 2017
32. Therrell BL Jr, Hannon WH, Hoffman G, et al. Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: challenges in newborn dried blood spot screening. Mol Genet Metab 2012;106:1–6
33. Tsui LC, Dorfman R. The cystic fibrosis gene: A molecular genetic perspective. Cold Spring Harb Perspect Med.2013;3:a009472. doi:10.1101/cshperspect.