References
- Silverman EK, Sandhaus RA. Clinical practice. Alpha1-antitrypsin deficiency. N Engl J Med 2009; 360(26):2749–2757.
- Greulich T, Vogelmeier CF. Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis. Ther Adv Respir Dis 2016; 10(1):72–84.
- Lyons PA, Rayner TF, Trivedi S, Holle JU, Watts RA, Jayne DR, et al. Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med 2012; 367(3):214–223.
- American Thoracic Society; European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168(7):818–900.
- Blanco I, de Serres FJ, Fernandez-Bustillo E, Lara B, Miravitlles M. Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha1-antitrypsin deficiency in European countries. Eur Respir J 2006; 27(1):77–84.
- Rahaghi FF, Sandhaus RA, Brantly ML, Rouhani ML, Campos MA, Strange C, et al. The prevalence of alpha-1 antitrypsin deficiency among patients found to have airflow obstruction. COPD 2012; 9(4):352–358.
- Greulich T, Ottaviani S, Bals R, Lepper PM, Vogelmeier C, Luisetti M, et al. Alpha1-antitrypsin deficiency – diagnostic testing and disease awareness in Germany and Italy. Respir Med 2013; 107(9):1400–1408.
- Barrecheguren M, Monteagudo M, Simonet P, Llor C, Rodriguez E, Ferrer J, et al. Diagnosis of alpha-1 antitrypsin deficiency: a population-based study. Int J Chron Obstruct Pulmon Dis 2016;11:999–1004.
- Barrecheguren M, Monteagudo M, Ferrer J, Borrell E, Llor C, Esquinas C, et al. Treatment patterns in COPD patients newly diagnosed in primary care. A population-based study. Respir Med 2016; 111:47–53.
- Greulich T, Nell C, Herr C, Vogelmeier C, Kotke V, Weidmann S, et al. Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003–2015. Orphanet J Rare Dis 2016; 11(1):75.
- Greulich T, Nell C, Hohmann D, Grebe M, Janciauskiene S, Koczulla AR, Vogelmeier CF. The prevalence of diagnosed α1-antitrypsin deficiency and its comorbidities: results from a large population-based database. Eur Respir J 2017; 49(1). pii:1600154.
- Seersholm N, Wencker M, Banik N, Viskum K, Dirksen A, Kok-Jensen A, et al. Does alpha1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary alpha1-antitrypsin deficiency? Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen (WATL) alpha1-AT study group. Eur Respir J 1997; 10(10):2260–2263.
- Survival and FEV1 decline in individuals with severe deficiency of alpha1-antitrypsin. The Alpha-1-Antitrypsin Deficiency Registry Study Group. Am J Respir Crit Care Med 1998; 158(1):49–59.
- Dirksen A, Piitulainen E, Parr DG, Deng C, Wencker M, Shaker SB, et al. Exploring the role of CT densitometry: a randomised study of augmentation therapy in alpha1-antitrypsin deficiency. Eur Respir J 2009; 33(6):1345–1353.
- Dirksen A, Dijkman JH, Madsen F, Stoel B, Hutchison DC, Ulrik CS, et al. A randomized clinical trial of alpha 1-antitrypsin augmentation therapy. Am J Respir Crit Care Med 1999; 160:1468–1472.
- Stockley RA, Parr DG, Piitulainen E, Stolk J, Stoel BC, Dirksen A. Therapeutic efficacy of α-1 antitrypsin augmentation therapy on the loss of lung tissue: an integrated analysis of 2 randomised clinical trials using computed tomography densitometry. Respir Res 2010; 11:136.
- Chapman KR, Burdon JG, Piitulainen E, Sandhaus RA, Seersholm N, Stocks JM, et al. Intravenous augmentation treatment and lung density in severe α1 antitrypsin deficiency (RAPID): a randomised, double-blind, placebo-controlled trial. Lancet 2015; 386(9991):360–368.
- Coxson HO, Dirksen A, Edwards LD, Yates JC, Agusti A, Bakke P, et al. The presence and progression of emphysema in COPD as determined by CT scanning and biomarker expression: a prospective analysis from the ECLIPSE study. Lancet Respir Med 2013; 1(2):129–136.
- Green CE, Parr DG, Edgar RG, Stockley RA, Turner AM. Lung density associates with survival in alpha 1 antitrypsin deficient patients. Respir Med 2016; 112:81–87.
- Sandhaus RA, Turino G, Brantly ML, Campos M, Cross CE, Goodman K, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis (Miami) 2016; 3(3):668–682.