References
- Alpha-1 antitrypsin deficiency Task force. American Thoracic Society/European Respiratory Society Statement: Standars for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168: 818–900.
- Cox DW, Woo SL, Mansfield T. DNA restriction fragments associated with alpha-1 antitrypsin indicate a single origin for deficiency allele PIZ. Nature 1985; 316:79–81.
- Hutchinson DC. Alpha-1 antitrypsin deficiency in Europe: geographical distribution of Pi types S and Z. Respir Med 1998; 92:367—377.
- Blanco I, de Serres FJ, Fernández-Bustillo E, et al. Estimated numbers and prevalence of PI*S and PI*Z alleles of alpha-1-antitrypsin deficiency in European countries. Eur Resp J 2006; 27(1):77–84.
- Vidal R, Miravitlles M, de Gracia X, et al. Replacement therapy for emphysema due to alpha-1 antitrypsin deficiency. Med Clin (Barc) 1991; 96:180–182.
- Vidal R, Miravitlles M. A report on the Spanish Registry of Patients with alpha-1 antitrypsin deficiency. The Alpha-1 antitrypsin Deficiency Study Group. Arch Bronconeumol 1995; 31(6):299–302.
- Miravitlles M, Vidal R, Barros-Tizón JC, et al. Usefulness of a national registry of alpha-1 antitrypsin deficiency. The Spanish experience. Respir Med 1998; 92(10): 1181–1187.
- Miravitlles M, Vidal R, Barros-Tizón JC, et al. The current state of substitution treatment in congenital emphysema due to alpha-1-antitrypsin deficiency. The report of the National Registry. Arch Bronconeumol 1999; 35:446–454.
- Lara B, Roza de la C, Vilà S, et al. Development and results of the Spanish Registry of patients with alpha-1-antitrypsin deficiency. Int J Chron Obst Pulm Dis 2007; 2(3):1–6.
- Lara B, Blanco I, Miravitlles M, et al. Registries of respiratory diseases in Spain: fundamentals and organization. Arch Bronconeumol 2011; 47(8):389–396.
- Vidal R, Blanco I, Casas F, et al. Guidelines for the diagnosis and management of alpha-1 antitrypsin deficiency. Arch Bronconeumol 2006; 42(12):645–659.
- Rodríguez F, Jardí R, Costa X, et al. Rapid screening for alpha-1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood spots. Am J Respir Crit Care Med 2002; 166:814–817.
- Roza De la, Rodríguez-Frías F, Lara B, et al. Results of a case-detection programme for alpha-1 antitrypsin deficiency in COPD patients. Eur Respir J 2005; 26:616–622.
- Molina J, Flor X, García R, Timiraos R, et al. The IDDEA project: a strategy for the detection of alpha-1 antitrypsin deficiency in COPD patients in the primary care setting. Ther Adv Respir Dis 2011; 5:237–243.
- Miravitlles M, Herr C, Ferrarotti I, et al. Laboratory testing of individuals with severe AAT deficiency in three European centres. Eur Respir J 2010; 35:960–968.
- Tirado-Conde G, Lara B, Casas F, et al. Factors associated with the evolution of lung function in patients with alpha-1 antitrypsin deficiency in the Spanish registry. Arch Bronconeumol 2011; 47(10):495–503.
- Stockley RA, Luisetti M, Miravitlles M, Piitulainen E, et al. Ongoing research in Europe: Alpha One International Registry (AIR) objectives and development. Eur Respir J 2007; 29:582–586.
- Lara B, Casanova A, Castillo D, et al. Respiratory diseases registries in the national registry of rare diseases. Arch Bronconeumol 2014; 50:397–403.
- Casas F, Blanco I, Martinez MT, et al. Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency and chronic pulmonary obstructive disease: an update. Arch Bronconeumol 2015; 51(4):185–192.
- Blanco I, Fernández-Bustillo E, de Serres FJ, et al. PI*S and PI*Z alpha 1-antitrypsin deficiency: estimated prevalence and number of deficient subjects in Spain. Med Clin(Barc) 2004; 123(20):761–765.
- Rodríguez-Frías F, Miravitlles M, Vidal R, et al. Rare alpha-1 antitryipsin variants: are they really so rare? Ther Adv Respir Dis 2012; 6(2):79–85.
- Stockley R, Dirksen A, Stolk J. Alpha-1 antitrypsin deficiency: the European Experience. COPD 2013; 10(1):50–53.
- Stoller JK, Brantly M, Fleming LE, Bean JA, et al. Formation and current results of a patients-organized registry for alpha-1 antitrypsin deficiency. Chest 2000; 118(3):843–848.
- Luisetti M, Seersholm N. Alpha-1 antitrypsin deficiency. Epidemiology of alpha-1 antitrypsin deficiency. Thorax 2004; 59:164–169.
- Blanco I, de Serres FJ, Cárcaba V, et al. Alpha-1 antitrypsin deficiency PI*Z and PI*S gene frequency distribution using on maps of the world by an inverse distance weighting (IDW) multivariate interpolation method. Hepat Mon 2012; 12: e7434.
- Ferrarotti I, Baccheschi J, Zorzetto M, Tinelli C, et al. Prevalence and phenotype of subjects carrying rare variants in the Italian Registry of Alpha-1 antitrypsin deficiency. J Med Genet 2005; 42(43):282–287.
- Stoller JK, Brantly M. The challenge of detecting alpha-1 antitrypsin deficiency. COPD 2013; 10:26–34.
- Alpha-1 antitrypsin deficiency Registry Study Group. Survival and FEV1 decline in individuals with severe deficiency of alpha-1 antitrypsin. Am J Resp Crit Care Med 1998; 158:49–59.
- Piras B, Ferrarotti I, Lara B, Martínez MT, et al. Clinical phenotypes of Italian and Spanish patients with alpha-1 antitryipsin deficiency. Eur Respir J 2013; 42 (1):54–64.