References
- Sharma N, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet. 2013 Oct;45(10):1160–7.
- Guo J, Garratt A, Hill A. Worldwide rates of diagnosis and effective treatment for cystic fibrosis. J Cyst Fibros. 2022 May;21(3):456–462. doi: 10.1016/j.jcf.2022.01.009. Epub 2022 Feb 4. PMID: 35125294
- Bell SC, DeBoeck K, D Amaral M. New Pharmacological Approaches for Cystic Fibrosis: Promises, Progress, Pitfalls. Pharmacol Ther. 2015 Jan; 145:19–34
- The molecular genetic epidemiology of cystic fibrosis. Human Genetics Program, Chronic Diseases and Health Promotion, World Health Organization: Report of a joint meeting of WHO/ECFTN/ICF(M) A/ECFS; 2002.
- O’Sullivan BP, Freedman SD. Cystic fibrosis. Lancet. 2009 May 30; 373(9678):1891–904.
www.ecfs.eu/ecfspr - Institute of Statistics Albania
www.instat.gov.al - CFTR2 31 August 2018.
www.cftr2.org/mutation list - European Cystic fibrosis society. Patient Registry. At-A-Glance report 2016
- European Cystic fibrosis society. Patient Registry. At-A-Glance report 2021
- Bobadilla JL1, Macek M Jr, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening. Hum Mutat. 2002 Jun; 19(6):575–606.
https://www.registroitalianofibrosicistica.it/documenti/servizi/rifc_at_a_glance_2021.pdf - Terzic M, Jakimovska M, Fustik S, Jakovska T, Sukarova-Stefanovska E, Plaseska-Karanfilska D. Cystic fibrosis mutation spectrum in North Macedonia: A step toward personalized therapy. Balkan Journal of Medical Genetics. 2019 Aug 28;22(1):35–40.
- Radivojevic D, Djurisic M, Lalic T, Guc-Scekic M, Savic J, Minic P. Spectrum of cystic fibrosis mutations in Serbia and Montenegro and strategy for prenatal diagnosis. Genet Test. 2004;8(3):276–280. et al.
- Fustik S, Plaseska Karanfilska D, Terzikj M, Spirevska L, Stamatova A. Spectrum of CFTR mutations in Republic of North Macedonia European Respiratory Journal 2020 56: 2768; DOI: 10.1183/13993003.congress-2020.2768,
- T. Dörk, M. Macek Jr., F. Mekus, B. Tümmler, J. Tzountzouris, T. Casals, et al. Characterization of a novel 21-kb deletion, CFTRdele2,3 (21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East EuropeHum Genet, 106 (2000), pp. 259–268
- Ikpa PT, Bijvelds MJ, De Jonge HR. Cystic fibrosis: toward personalized therapies. Int J Biochem Cell Biol 2014; 52:192–200
- Rubin JL1, O’Callaghan L2, Pelligra C3, Konstan MW4, Ward A3, Ishak JK5, Chandler C3, Liou TG6. Modeling long-term health outcomes of patients with cystic fibrosis homozygous for F508del-CFTR treated with lumacaftor/ivacaftor. TherAdvRespir Dis. 2019 Jan–Dec; 13:175
- Ponzano S, Nigrelli G, Fregonese L, Eichler I, Bertozzi F, Bandiera T, Galietta LJV3, Papaluca M1. A European regulatory perspective on cystic fibrosis: current treatments, trends in drug development and translational challenges for CFTR modulators. Eur-Respir Rev. 2018 Apr 13; 27(148).