References
- De Serres FJ. Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect. 2003;111(16):1851–1854.
- O’Brien ME, Pennycooke K, Carroll TP, et al. The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease. COPD. 2015;12(Suppl 1):2–9.
- Perlmutter DH, Brodsky JL, Balistreri WF, et al. Molecular pathogenesis of alpha-1-antitrypsin deficiency-associated liver disease: a meeting review. Hepatology. 2007;45(5):1313–1323.
- Teckman JH, Blomenkamp KS. Pathophysiology of alpha-1 antitrypsin deficiency liver disease. Methods Mol Biol. 2017;1639:1–8.
- Psacharopoulos HT, Mowat AP, Cook PJ, et al. Outcome of liver disease associated with alpha 1 antitrypsin deficiency (PiZ). Implications for genetic counselling and antenatal diagnosis. Arch Dis Child. 1983;58(11):882–887.
- Sveger T. Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants. N Engl J Med. 1976;294(24):1316–1321.
- Sveger T. Prospective study of children with alpha 1-antitrypsin deficiency: eight-year-old follow-up. J Pediatr. 1984;104(1):91–94.
- Kemmer N, Kaiser T, Zacharias V, et al. Alpha-1-antitrypsin deficiency: outcomes after liver transplantation. Transplant Proc. 2008;40(5):1492–1494.
- Townsend SA, Edgar RG, Ellis PR, et al. Systematic review: the natural history of alpha-1 antitrypsin deficiency, and associated liver disease. Aliment Pharmacol Ther. 2018;47(7):877–885.
- Bowlus CL, Willner I, Zern MA, et al. Factors associated with advanced liver disease in adults with alpha1-antitrypsin deficiency. Clin Gastroenterol Hepatol. 2005;3(4):390–396.
- Francavilla R, Castellaneta SP, Hadzic N, et al. Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation. J Hepatol. 2000;32(6):986–992.
- Kekez A, Cs M, Hadzic N. Medium-term outcome of children with liver disease secondary to PiZ alpha-1-antitrypsin deficiency. Hepatology. 2013;58:813A.
- Filipponi F, Soubrane O, Labrousse F, et al. Liver transplantation for end-stage liver disease associated with alpha-1-antitrypsin deficiency in children: pretransplant natural history, timing and results of transplantation. J Hepatol. 1994;20(1):72–78.
- Perlmutter DH. Alpha-1-antitrypsin deficiency: importance of proteasomal and autophagic degradative pathways in disposal of liver disease-associated protein aggregates. Annu Rev Med. 2011;62:333–345.
- Pferdmenges DC, Baumann U, Muller-Heine A, et al. Prognostic marker for liver disease due to alpha1-antitrypsin deficiency. Klin Padiatr. 2013;225(5):257–262.
- Moroz SP, Cutz E, Cox DW, et al. Liver disease associated with alpha1-antitrypsin deficiency in childhood. J Pediatr. 1976;88(1):19–25.
- Nebbia G, Hadchouel M, Odievre M, et al. Early assessment of evolution of liver disease associated with alpha 1-antitrypsin deficiency in childhood. J Pediatr. 1983;102(5):661–665.
- Carey EJ, Iyer VN, Nelson DR, et al. Outcomes for recipients of liver transplantation for alpha-1-antitrypsin deficiency-related cirrhosis. Liver Transpl. 2013;19(12):1370–1376.
- Propst A, Propst T, Ofner D, et al. Prognosis and life expectancy on alpha-1-antitrypsin deficiency and chronic liver disease. Scand J Gastroenterol. 1995;30(11):1108–1112.
- Triger DR, Millward-Sadler GH, Czaykowski AA, et al. Alpha-1-antitrypsin deficiency and liver in adults. Q J Med. 1976;45(178):B51–72.
- Clark V, Marek G, Liu C, et al. Performance of transient elastography in adults with α-1 antitrypsin deficiency. Gastroenterology. 2016;150(4):S1054.
- Janciauskiene S, Wallmark A, Piitulainen E, et al. Performance of enhanced liver fibrosis plasma markers in asymptomatic individuals with ZZ alpha1-antitrypsin deficiency. Eur J Gastroenterol Hepatol. 2011;23(8):716–720.