Муковисцидоз: определение, диагностические критерии, терапия. Национальный консенсус - стр. 45
21. Farrell P.M., Rosenstein B.J., White T.B., et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J. Pediatr. 2008 Aug; 153 (2): S4-S14.
22. De Boeck K., Wilschanski M., Castellani C.J., et. al. Cystic fibrosis: terminology and diagnostical gorithms. Thorax. 2006 Jul; 61 (7): 627-635.
23. Bombieri C., Claustres M., De Boeck K .et al. Recommendations for the classification of diseases as CFTR-related disorders. J. Cyst. Fibros. 2011 Jun; 10 Suppl 2: S86-102.
24. Munck A., Mayell S.J., Winters V. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J. Cyst. Fibros. 2015 Nov; 14 (6): 706-713.
25. Ooi C.Y., Castellani C., Keenan K. et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics. 2015. Jun; 135 (6): e1377-85.
26. World Health Organization. Classification of cystic fibrosis and related disorders, Report of a Joint Working Group of WHO/ICF(M)A/ECFS/ECFTN, 2001. J. Cyst. Fibros. 2002 Mar; 1 (1): 5-8.
27. LaRusch J., Jung J., General I.J., et al. Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. PLoS Genet. 2014. Jul. 17; 10 (7): e1004376.
28. Witt H. Chronic pancreatitis and cystic fibrosis. Gut. 2003 May; 52 Suppl. 2: ii31-41.
29. Pettit R.S., Fellner C. CFTR Modulators for the Treatment of Cystic Fibrosis. P T. 2014 Jul; 39 (7): 500-511.
30. Кондратьева Е.И. Инновационные методы терапии муковисцидоза. Врач. 2016, №2: 77-81.
31. Mall M., Grubb B.R., Harkema J.R., O’Neal W.K., Boucher R.C. Increased airway epithelial Na>+ absorption produces cystic fibrosis-like lung disease in mice. Nat. Med. 2004 May; 10 (5): 487-493.
32. Sheridan M.B., Fong P., Groman J.D., et al. Mutations in the beta subunitof the epithelial Na>+ channel in patients with a cystic fibrosis-like syndrome. Hum. Mol. Genet. 2005. Nov. 15; 14 (22): 3493-3498.
33. Gallati S. Disease-modifying genes and monogenic disorders: experience in cystic fibrosis. Appl. Clin. Genet. 2014. Jul. 10; 7: 133-146.
34. Красовский С.А., Каширская Н.Ю., Черняк А.В. и др. Генетическая характеристика больных муковисцидозом в Российской Федерации по данным Национального регистра (2014 г.). Пульмонология. 2016; 26 (2): 133-151.
35. Степанова А.А., Абрукова А.В., Саваскина Е.Н., Поляков А.В. Мутация p.E92K – основная причина муковисцидоза у чувашей. Генетика. 2012; 48 (7): 863-871.