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ORIGINAL RESEARCH

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

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Alessandro N. Franciosi, Mansour A. Alkhunaizi, Andrew Woodsmith, Layali Aldaihani, Hamad Alkandari, Siobhán E. Lee, Laura T. Fee, Noel G. McElvaney & Tomás P. Carroll. (2021) Alpha-1 Antitrypsin Deficiency and Tobacco Smoking: Exploring Risk Factors and Smoking Cessation in a Registry Population. COPD: Journal of Chronic Obstructive Pulmonary Disease 18:1, pages 76-82.
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Priya S Chukowry, Ross Gareth Edgar & Alice M Turner. (2019) Alpha 1 antitrypsin deficiency: a rare multisystem disease, predominantly affecting the lung. Expert Opinion on Orphan Drugs 7:7-8, pages 315-326.
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Sarah Townsend, Philip Newsome & Alice M. Turner. (2018) Presentation and prognosis of liver disease in alpha-1 antitrypsin deficiency. Expert Review of Gastroenterology & Hepatology 12:8, pages 745-747.
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Ilaria Ferrarotti, Angelo Guido Corsico, Jan Stolk, Stefania Ottaviani, Marco Fumagalli, Sabina Janciauskiene & Paolo Iadarola. (2017) Advances in Identifying Urine/Serum Biomarkers in Alpha-1 Antitrypsin Deficiency for More Personalized Future Treatment Strategies. COPD: Journal of Chronic Obstructive Pulmonary Disease 14:1, pages 56-65.
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Maria Paula Henao & Timothy J. Craig. (2016) Recent advances in understanding and treating COPD related to α1-antitrypsin deficiency. Expert Review of Respiratory Medicine 10:12, pages 1281-1294.
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Joanna Chorostowska-Wynimko. (2016) Disease Modification in Emphysema Related to Alpha-1 Antitrypsin Deficiency. COPD: Journal of Chronic Obstructive Pulmonary Disease 13:6, pages 807-815.
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Articles from other publishers (21)

Francisco Dasí. (2023) Alpha-1 antitrypsin deficiency. Medicina Clínica.
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Catherina Werdecker & Robert Bals. (2023) Impact of the COVID-19 pandemic on well-being and quality of life of patients with alpha-1-antitrypsin deficiency. Respiratory Research 24:1.
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M.J.V. Silva, S. Seixas, M.J. Canotilho & S. Feijó. (2023) Alpha-1-antitrypsin deficiency caused by a PI*ZQ0Leiria genotype- the importance of diagnosis algorithms. Pulmonology 29:1, pages 77-78.
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Nathalie van der Rijst & Jamie L. Garfield. 2023. Tobacco Dependence. Tobacco Dependence 23 43 .
Linxi Meng, Will Treem, Graham A. Heap & Jingjing Chen. (2022) A stacking ensemble machine learning model to predict alpha-1 antitrypsin deficiency-associated liver disease clinical outcomes based on UK Biobank data. Scientific Reports 12:1.
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J.-F. Mornex. (2022) Le déficit en alpha 1-antitrypsine. Revue des Maladies Respiratoires 39:8, pages 698-707.
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Michael E O'Brien, Laura Fee, Niall Browne, Tomás P Carroll, Paula Meleady, Michael Henry, Karen McQuillan, Mark P Murphy, Mark Logan, Cormac McCarthy, Oliver J McElvaney, Emer P Reeves & Noel G McElvaney. (2020) Activation of complement component 3 is associated with airways disease and pulmonary emphysema in alpha-1 antitrypsin deficiency. Thorax 75:4, pages 321-330.
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Mario Cazzola, Daiana Stolz, Paola Rogliani & Maria Gabriella Matera. (2020) α 1 -Antitrypsin deficiency and chronic respiratory disorders . European Respiratory Review 29:155, pages 190073.
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Ali Ataya. (2020) Recurrence of emphysema post-lung transplantation in a patient with alpha 1 antitrypsin deficiency (AATD). Respiratory Medicine Case Reports 31, pages 101309.
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Alexandru Corlateanu, Serghei Covantev, Irina Caraivanova, Vlada Bodrug, Victor Botnaru, Joseph Varon & Nikolaos Siafakas. (2019) Alpha-1 Antitrypsin Deficiency and Chronic Obstructive Pulmonary Disease: Between Overlaps, Phenotypes and Illnesses. Current Respiratory Medicine Reviews 15:2, pages 147-155.
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Marc Miravitlles, Joanna Chorostowska-Wynimko, Ilaria Ferrarotti, Noel G. McElvaney, Karen O'Hara, Jan Stolk, Robert A. Stockley, Alice Turner, Marion Wilkens & Timm Greulich. (2019) The European Alpha-1 Research Collaboration (EARCO): a new ERS Clinical Research Collaboration to promote research in alpha-1 antitrypsin deficiency. European Respiratory Journal 53:2, pages 1900138.
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María Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francisco Casas & Francisco Dasí. (2018) Alpha-1 antitrypsin deficiency: outstanding questions and future directions. Orphanet Journal of Rare Diseases 13:1.
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A.P. Lopes, M.A. Mineiro, F. Costa, J. Gomes, C. Santos, C. Antunes, D. Maia, R. Melo, M. Canotilho, E. Magalhães, I. Vicente, C. Valente, B.G. Gonçalves, B. Conde, C. Guimarães, C. Sousa, J. Amado, M.E. Brandão, M. Sucena, M.J. Oliveira, S. Seixas, V. Teixeira & L. Telo. (2018) Portuguese consensus document for the management of alpha-1-antitrypsin deficiency. Pulmonology 24, pages 1-21.
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Timothy J. Craig & Maria Paula Henao. (2018) Advances in managing COPD related to α 1 -antitrypsin deficiency: An under-recognized genetic disorder . Allergy 73:11, pages 2110-2121.
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Ilaria Ferrarotti, Stefania Ottaviani, Annalisa De Silvestri & Angelo G. Corsico. (2018) Update on α 1 -antitrypsin deficiency . Breathe 14:2, pages e17-e24.
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S. A. Townsend, R. G. Edgar, P. R. Ellis, D. Kantas, P. N. Newsome & A. M. Turner. (2018) Systematic review: the natural history of alpha-1 antitrypsin deficiency, and associated liver disease. Alimentary Pharmacology & Therapeutics 47:7, pages 877-885.
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Nikolas Bernhard, Philipp M. Lepper, Claus Vogelmeier, Martina Seibert, Stefan Wagenpfeil, Robert Bals & Sebastian Fähndrich. (2017) Intensive smoking diminishes the differences in quality of life and exacerbation frequency between the alpha-1-antitrypsin deficiency genotypes PiZZ and PiSZ. Respiratory Medicine 130, pages 1-8.
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Ignacio Blanco. 2017. Blanco's Overview of Alpha-1 Antitrypsin Deficiency. Blanco's Overview of Alpha-1 Antitrypsin Deficiency 193 206 .
Ignacio Blanco. 2017. Blanco's Overview of Alpha-1 Antitrypsin Deficiency. Blanco's Overview of Alpha-1 Antitrypsin Deficiency 115 128 .
Alisha M. Gruntman & Terence R. Flotte. 2017. Alpha-1 Antitrypsin Deficiency. Alpha-1 Antitrypsin Deficiency 267 275 .
Catherine M. Greene, Stefan J. Marciniak, Jeffrey Teckman, Ilaria Ferrarotti, Mark L. Brantly, David A. Lomas, James K. Stoller & Noel G. McElvaney. (2016) α1-Antitrypsin deficiency. Nature Reviews Disease Primers 2:1.
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