TY - JOUR AU - Laurell, C. B. AU - Eriksson, S. PY - 1963 DA - 1963// TI - The electrophoretic pattern alpha1-globulin pattern of serum in alpha1-antitrypsin deficiency JO - Scan J Clin Lab Invest VL - 15 UR - https://doi.org/10.1080/00365516309051324 DO - 10.1080/00365516309051324 ID - Laurell1963 ER - TY - JOUR AU - Fagerhol, M. K. AU - Laurell, C. B. PY - 1967 DA - 1967// TI - The polymorphism of "prealbumins" and alpha-1-antitrypsin in human sera JO - Clin Chim Acta VL - 16 UR - https://doi.org/10.1016/0009-8981(67)90181-7 DO - 10.1016/0009-8981(67)90181-7 ID - Fagerhol1967 ER - TY - JOUR PY - 1997 DA - 1997// TI - Alpha-1-antitrypsin deficiency: memorandum from a WHO meeting JO - Bull World Health Organ VL - 75 ID - ref3 ER - TY - JOUR AU - de Serres, F. J. PY - 2002 DA - 2002// TI - Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys JO - Chest VL - 122 UR - https://doi.org/10.1378/chest.122.5.1818 DO - 10.1378/chest.122.5.1818 ID - de Serres2002 ER - TY - JOUR AU - Brantly, M. AU - Nukiwa, T. AU - Crystal, R. G. PY - 1988 DA - 1988// TI - Molecular basis of alpha-1-antitrypsin deficiency JO - Am J Med VL - 84 UR - https://doi.org/10.1016/S0002-9343(88)80066-4 DO - 10.1016/S0002-9343(88)80066-4 ID - Brantly1988 ER - TY - JOUR AU - Gadek, J. E. AU - Fells, G. A. AU - Zimmerman, R. L. AU - Rennard, S. I. AU - Crystal, R. G. PY - 1981 DA - 1981// TI - Antielastases of the human alveolar structures. Implications for the protease-antiprotease theory of emphysema JO - J Clin Invest VL - 68 UR - https://doi.org/10.1172/JCI110344 DO - 10.1172/JCI110344 ID - Gadek1981 ER - TY - JOUR AU - Sveger, T. PY - 1976 DA - 1976// TI - Liver disease in alpha1-antitrypsin deficiency detected by screening of 200,000 infants JO - N Engl J Med VL - 294 UR - https://doi.org/10.1056/NEJM197606102942404 DO - 10.1056/NEJM197606102942404 ID - Sveger1976 ER - TY - JOUR AU - Hutchison, D. C. PY - 1998 DA - 1998// TI - Alpha1 antitrypsin deficiency in Europe; geographical distribution of Pi types S and Z JO - Respir Med VL - 92 UR - https://doi.org/10.1016/S0954-6111(98)90278-5 DO - 10.1016/S0954-6111(98)90278-5 ID - Hutchison1998 ER - TY - JOUR AU - Dykes, D. AU - Miller, S. AU - Polesky, H. PY - 1984 DA - 1984// TI - Distribution of alpha1 antitrypsin in a US white population JO - Hum Hered VL - 34 UR - https://doi.org/10.1159/000153485 DO - 10.1159/000153485 ID - Dykes1984 ER - TY - JOUR PY - 2003 DA - 2003// TI - American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency JO - Am J Respir Crit Care Med VL - 168 UR - https://doi.org/10.1164/rccm.168.7.818 DO - 10.1164/rccm.168.7.818 ID - ref10 ER - TY - JOUR AU - Jeppson, J. O. PY - 1976 DA - 1976// TI - Amino acid substitution Glu leads to Lys alpha-1 antitrypsin PiZ JO - FEBS Lett VL - 65 UR - https://doi.org/10.1016/0014-5793(76)80478-4 DO - 10.1016/0014-5793(76)80478-4 ID - Jeppson1976 ER - TY - JOUR AU - Carrell, R. W. AU - Lomas, D. A. PY - 2002 DA - 2002// TI - Alpha1-antitrypsin deficiency – a model for conformational diseases JO - N Engl J Med VL - 346 UR - https://doi.org/10.1056/NEJMra010772 DO - 10.1056/NEJMra010772 ID - Carrell2002 ER - TY - JOUR AU - Sveger, T. AU - Eriksson, S. PY - 1995 DA - 1995// TI - The liver in adolescents with alpha 1-antitrypsin deficiency JO - Hepatology VL - 22 ID - Sveger1995 ER - TY - JOUR AU - Sveger, T. AU - Thelin, T. AU - McNeil, T. F. PY - 1997 DA - 1997// TI - Young adults with alpha 1-antitrypsin deficiency identified neonatally: their health, knowledge about and adaptation to the high-risk condition JO - Acta Paediatr VL - 86 UR - https://doi.org/10.1111/j.1651-2227.1997.tb08828.x DO - 10.1111/j.1651-2227.1997.tb08828.x ID - Sveger1997 ER - TY - JOUR AU - Francavilla, R. AU - Castellaneta, S. P. AU - Hadžić, N. PY - 2000 DA - 2000// TI - Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantation JO - J Hepatol VL - 32 UR - https://doi.org/10.1016/S0168-8278(00)80103-8 DO - 10.1016/S0168-8278(00)80103-8 ID - Francavilla2000 ER - TY - JOUR AU - Parham, D. M. AU - Paterson, J. R. AU - Gunn, A. AU - Guthrie, W. PY - 1989 DA - 1989// TI - Cholangiocarcinoma in two siblings with emphysema and alpha-1 JO - Q Med J VL - 71 ID - Parham1989 ER - TY - JOUR AU - Cox, D. W. AU - Levison, H. PY - 1988 DA - 1988// TI - Emphysema of early onset associated with a complete deficiency of alpha-1 antitrypsin (null homozygotes) JO - Am Rev Respir Dis VL - 137 UR - https://doi.org/10.1164/ajrccm/137.2.371 DO - 10.1164/ajrccm/137.2.371 ID - Cox1988 ER - TY - JOUR AU - Eriksson, S. PY - 1964 DA - 1964// TI - Pulmonary emphysema and alpha-1-antitrypsin deficiency JO - Acta Med Scand VL - 175 UR - https://doi.org/10.1111/j.0954-6820.1964.tb00567.x DO - 10.1111/j.0954-6820.1964.tb00567.x ID - Eriksson1964 ER - TY - JOUR AU - Kramps, J. A. AU - Bakker, W. AU - Dijkman, J. H. PY - 1980 DA - 1980// TI - A matched-pair study of the leukocyte elastase-like activity in normal persons and in emphysematous patients with and without alpha1-antitrypsin deficiency JO - Am Rev Respir Dis VL - 121 ID - Kramps1980 ER - TY - JOUR AU - Turino, G. M. AU - Barker, A. F. AU - Brantly, M. L. PY - 1996 DA - 1996// TI - Clinical features of individuals with PiSZ phenotype of alpha-1-antitrypsin deficiency JO - Am J Respir Crit Care Med VL - 154 UR - https://doi.org/10.1164/ajrccm.154.6.8970361 DO - 10.1164/ajrccm.154.6.8970361 ID - Turino1996 ER - TY - JOUR AU - Mahadeva, R. AU - Atkinson, C. AU - Li, Z. AU - Stewart, S. AU - Janciauskiene, S. AU - Kelley, D. G. AU - Parmar, J. AU - Pitman, R. AU - Shapiro, S. D. AU - Lomas, D. A. PY - 2005 DA - 2005// TI - Polymers of Z alpha1-antitrypsin co-localize with neutrophils in emphysematous alveoli and are chemotactic in vivo JO - Am J Pathol VL - 166 UR - https://doi.org/10.1016/S0002-9440(10)62261-4 DO - 10.1016/S0002-9440(10)62261-4 ID - Mahadeva2005 ER - TY - JOUR AU - Stockley, R. A. AU - Luisetti, M. AU - Miravitlles, M. AU - Piitulainen, E. AU - Fernandez, P. PY - 2007 DA - 2007// TI - Ongoing research in Europe: Alpha One International Registry (AIR) objectives and development JO - Eur Respir J VL - 29 UR - https://doi.org/10.1183/09031936.00053606 DO - 10.1183/09031936.00053606 ID - Stockley2007 ER - TY - JOUR AU - Clark, P. AU - Breit, S. N. AU - Dawkins, R. L. AU - Penny, R. PY - 1982 DA - 1982// TI - Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency JO - Am J Genet VL - 213 UR - https://doi.org/10.1002/ajmg.1320130110 DO - 10.1002/ajmg.1320130110 ID - Clark1982 ER - TY - JOUR AU - Yamamoto, Y. AU - Sawa, R. AU - Okamoto, N. AU - Yanawa, M. AU - Ikemoto PY - 1986 DA - 1986// TI - Deletion 14q(q24.3 to q32.1) syndrome: Significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin) JO - Hum Genet VL - 74 UR - https://doi.org/10.1007/BF00282092 DO - 10.1007/BF00282092 ID - Yamamoto1986 ER - TY - JOUR AU - Kalsheker, N. AU - Morley, S. AU - Morgan, K. PY - 2002 DA - 2002// TI - Gene regulation of the serine proteinase inhibitors α1-antitrypsin and α1-antichymotrypsin JO - Biochem Soc Trans VL - 30 UR - https://doi.org/10.1042/bst0300093 DO - 10.1042/bst0300093 ID - Kalsheker2002 ER - TY - JOUR AU - Boutten, A. AU - Venembre, P. AU - Seta, N. PY - 1998 DA - 1998// TI - Oncostatin M is a potent stimulator of alpha1-antitrypsin secretion in lung epithelial cells: modulation by transforming growth factor-beta and interferon-gamma JO - Am J Respir Cell Mol Biol VL - 18 UR - https://doi.org/10.1165/ajrcmb.18.4.2772 DO - 10.1165/ajrcmb.18.4.2772 ID - Boutten1998 ER - TY - JOUR AU - Zhou, L. AU - Twinning, S. S. AU - Yue, B. Y. PY - 1998 DA - 1998// TI - Involvement of Sp1 elements in the promoter activity of alpha1-proteinase inhibitor gene JO - J Biol Chem VL - 273 UR - https://doi.org/10.1074/jbc.273.16.9959 DO - 10.1074/jbc.273.16.9959 ID - Zhou1998 ER - TY - JOUR AU - McNab, G. L. AU - Ahmad, A. AU - Mistry, D. AU - Stockley, R. A. PY - 2007 DA - 2007// TI - Modification of gene expression and increase in alpha1-antitrypsin secretion after homologous recombination in alpha1-AT-deficient monocytes JO - Hum Gene Ther VL - 18 UR - https://doi.org/10.1089/hum.2007.073 DO - 10.1089/hum.2007.073 ID - McNab2007 ER - TY - JOUR AU - Ferrarotti, I. AU - Baccheschi, J. AU - Zorzetto, M. AU - Tinelli, C. AU - Corda, L. AU - Balbi, B. AU - Campo, I. AU - Pozzi, E. AU - Faa, G. AU - Coni, P. AU - Massi, G. AU - Stella, G. AU - Luisetti, M. PY - 2005 DA - 2005// TI - Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha-1 antitrypsin deficiency JO - J Med Genet VL - 42 UR - https://doi.org/10.1136/jmg.2004.023903 DO - 10.1136/jmg.2004.023903 ID - Ferrarotti2005 ER - TY - JOUR AU - Long, G. L. AU - Chandra, T. AU - Woo, S. L. AU - Davie, E. W. AU - Kurachi, K. PY - 1984 DA - 1984// TI - Complete sequence of the cDNA for human alpha-1-antitrypsin and the gene for the S variant JO - Biochemistry VL - 23 UR - https://doi.org/10.1021/bi00316a003 DO - 10.1021/bi00316a003 ID - Long1984 ER - TY - JOUR AU - Blanco, I. AU - de Serres, F. J. AU - Fernandez-Bustillo, E. AU - Lara, B. AU - Miravitlles, M. PY - 2006 DA - 2006// TI - Estimated numbers and prevalence of PiS* and PiZ* alleles of a1-antitrypsin defciency in European countries JO - Eur Respir J VL - 27 UR - https://doi.org/10.1183/09031936.06.00062305 DO - 10.1183/09031936.06.00062305 ID - Blanco2006 ER - TY - CHAP AU - Hay, J. G. AU - Suzuki, M. AU - Crystal, R. G. ED - Crystal, R. G. PY - 1996 DA - 1996// TI - Alpha1-antitrypsin gene and promoter BT - Alpha1-antitrypsin deficiency PB - Marcel Dekker Inc CY - New York ID - Hay1996 ER - TY - JOUR AU - Johnson, D. AU - Travis, J. PY - 1979 DA - 1979// TI - The oxidative inactivation of human alpha1-proteinase inhibitor: further evidence for the methionine at the active center JO - J Biol Chem VL - 254 ID - Johnson1979 ER - TY - JOUR AU - Bals, R. AU - Koczulla, R. AU - Kotke, V. AU - Andress, J. AU - Blackert, K. AU - Vogelmeier, C. PY - 2007 DA - 2007// TI - Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program JO - Respir Med VL - 101 UR - https://doi.org/10.1016/j.rmed.2007.02.024 DO - 10.1016/j.rmed.2007.02.024 ID - Bals2007 ER - TY - STD TI - Alpha1 International Registry (AIR). [http://www.aatregistry.org] UR - http://www.aatregistry.org ID - ref35 ER - TY - JOUR AU - Rabe, K. F. AU - Hurd, S. AU - Anzueto, A. AU - Barnes, P. J. AU - Buist, S. A. AU - Calverley, P. AU - Fukuchi, Y. AU - Jenkins, C. AU - Rodriguez-Roisin, R. AU - van Weel, C. AU - Zielinski, J. PY - 2007 DA - 2007// TI - Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease: GOLD executive summary JO - Am J Respir Crit Care Med VL - 176 UR - https://doi.org/10.1164/rccm.200703-456SO DO - 10.1164/rccm.200703-456SO ID - Rabe2007 ER - TY - JOUR AU - Stoller, J. K. AU - Smith, P. AU - Yang, P. AU - Spray, J. PY - 1994 DA - 1994// TI - Physical and social impact of alpha-1-antitrypsin deficiency: results of a mail survey of the readership of a national newsletter JO - Cleve Clin J Med VL - 61 UR - https://doi.org/10.3949/ccjm.61.6.461 DO - 10.3949/ccjm.61.6.461 ID - Stoller1994 ER - TY - JOUR AU - Seersholm, N. AU - Dirksen, A. AU - Kok-Jensen, A. PY - 1994 DA - 1994// TI - Airways obstruction and two year survival in patients with severe alpha 1-antitrypsin deficiency JO - Eur Respir J VL - 7 ID - Seersholm1994 ER - TY - JOUR AU - Seersholm, N. AU - Kok-Jensen, A. PY - 1998 DA - 1998// TI - Clinical features and prognosis of life-time non-smokers with severe alpa-1-antitrypsin deficiency JO - Thorax VL - 53 UR - https://doi.org/10.1136/thx.53.4.265 DO - 10.1136/thx.53.4.265 ID - Seersholm1998 ER - TY - JOUR AU - Dawkins, P. A. AU - Dowson, L. J. AU - Guest, P. J. AU - Stockley, R. A. PY - 2003 DA - 2003// TI - Predictors of mortality in alpha-1-antitrypsin deficiency JO - Thorax VL - 58 UR - https://doi.org/10.1136/thorax.58.12.1020 DO - 10.1136/thorax.58.12.1020 ID - Dawkins2003 ER - TY - JOUR AU - Larsson, C. PY - 1978 DA - 1978// TI - Natural history and life expectancy in severe alpha-1-antitrypsin deficiency PiZ JO - Acta Med Scand VL - 294 ID - Larsson1978 ER -