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COPD: Journal of Chronic Obstructive Pulmonary Disease Volume 12, 2015 - Issue sup1: Alpha1-antitrypsin deficiency
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ORIGINAL RESEARCH

Italian Registry of Patients with Alpha-1 Antitrypsin Deficiency: General Data and Quality of Life Evaluation

Maurizio Luisetti
,
Ilaria FerrarottiCorrespondence[email protected]
,
Luciano CordaMedicina Respiratoria, Seconda Divisione di Medicina Interna, Spedali Civili, Brescia, Italy
,
Stefania OttavianiCentro per la Diagnosi del Deficit Ereditario di Alfa-1 Antitripsina, Laboratorio di Biochimica e Genetica, S. C. Pneumologia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
,
Nuccia GattaAssociazione Nazionale ALFA1-AT, Sarezzo (BS), Italy
,
Carmine TinelliServizio di Statistica ed Epidemiologia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
,
Gisella BrulettiDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Lumezzane (BS), Italy
,
Enrica BertellaDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Lumezzane (BS), Italy
,
Gianluigi BalestroniServizio di Psicologia, Fondazione Salvatore Maugeri, IRCCS, Veruno (NO), Italy
,
Marco ConfalonieriS.C. Pneumologia, A.O. Ospedali Riuniti, Trieste, Italy
,
Christine SeebacherPneumologia, Azienda Sanitaria di Bolzano, Bolzano, Italy
,
Leonardo IannacciRiabilitazione Pneumologica, A.O.V.V. Presidio di Sondalo, Sondalo (SO), Italy
,
Simona FerrariCentro per la Diagnosi del Deficit Ereditario di Alfa-1 Antitripsina, Laboratorio di Biochimica e Genetica, S. C. Pneumologia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
,
Francesco G. SalernoDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Cassano Murge (BA), Italy
,
Frescesca MarianiCentro per la Diagnosi del Deficit Ereditario di Alfa-1 Antitripsina, Laboratorio di Biochimica e Genetica, S. C. Pneumologia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
,
Mauro CaroneDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Cassano Murge (BA), Italy
&
Bruno BalbiDivisione di Pneumologia, Fondazione Salvatore Maugeri, IRCCS, Veruno (NO), Italy
 show all
Pages 52-57 | Published online: 04 May 2015

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Joanna Chorostowska-Wynimko, Miriam Barrecheguren, Ilaria Ferrarotti, Timm Greulich, Robert A Sandhaus & Michael Campos. (2020) New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency. International Journal of Chronic Obstructive Pulmonary Disease 15, pages 345-355.
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Bruno Balbi, Claudia Sangiorgi, Isabella Gnemmi, Ilaria Ferrarotti, Davide Vallese, Elena Paracchini, Lorena Delle Donne, Luciano Corda, Paolo Baderna, Angelo Corsico, Mauro Carone, Paola Brun, Francesco Cappello, Fabio LM Ricciardolo, Paolo Ruggeri, Sharon Mumby, Ian M Adcock, Gaetano Caramori & Antonino Di Stefano. (2019) Bacterial load and inflammatory response in sputum of alpha-1 antitrypsin deficiency patients with COPD. International Journal of Chronic Obstructive Pulmonary Disease 14, pages 1879-1893.
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Irene Belmonte, Miriam Barrecheguren, Rosa M López-Martínez, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles & Francisco Rodríguez-Frías. (2016) Application of a diagnostic algorithm for the rare deficient variant Mmalton of alpha-1-antitrypsin deficiency: a new approach. International Journal of Chronic Obstructive Pulmonary Disease 11, pages 2535-2541.
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S.A. Papiris, M. Veith, A.I. Papaioannou, V. Apollonatou, I. Ferrarotti, S. Ottaviani, A. Tzouvelekis, V. Tzilas, N. Rovina, G. Stratakos, I. Gerogianni, Z. Daniil, L. Kolilekas, K. Dimakou, G. Pitsidianakis, N. Tzanakis, S. Tryfon, F. Fragopoulos, E.M. Antonogiannaki, A. Lazaratou, E. Fouka, D. Papakosta, P. Emmanouil, N. Anagnostopoulos, T. Karampitsakos, K. Vlami, M. Kallieri, P. Lyberopoulos, S. Loukides, D. Bouros, A. Bush, M. Balduyck, C. Lombard, V. Cottin, J.F. Mornex, C.F. Vogelmeier, T. Greulich & E.D. Manali. (2023) Alpha1-antitrypsin deficiency in Greece: Focus on rare variants. Pulmonology.
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Marc Miravitlles, Mike Herepath, Asim Priyendu, Sheetal Sharma, Tatiana Vilchez, Oliver Vit, Michaela Haensel, Virginie Lepage, Helena Gens & Timm Greulich. (2022) Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews. European Respiratory Review 31:163, pages 210262.
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Fernanda Martini, Monica De Mattei, Carlo Contini & Mauro G. Tognon. (2020) Potential Use of Alpha-1 Anti-trypsin in the Covid-19 Treatment. Frontiers in Cell and Developmental Biology 8.
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Mattia Laffranchi, Emma L.K. Elliston, Elena Miranda, Juan Perez, Riccardo Ronzoni, Alistair M. Jagger, Nina Heyer-Chauhan, Mark L. Brantly, Annamaria Fra, David A. Lomas & James A. Irving. (2020) Intrahepatic heteropolymerization of M and Z alpha-1-antitrypsin. JCI Insight 5:14.
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Gerard N. McElvaney, Robert A. Sandhaus, Marc Miravitlles, Gerard M. Turino, Niels Seersholm, Marion Wencker & Robert A. Stockley. (2020) Clinical considerations in individuals with α 1 -antitrypsin PI*SZ genotype . European Respiratory Journal 55:6, pages 1902410.
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Chiara Rigobello, Simonetta Baraldo, Mariaenrica Tinè, Ilaria Ferrarotti, Angelo Guido Corsico, Erica Bazzan, Graziella Turato, Elisabetta Balestro, Davide Biondini, Giorgio Valle, Marina Saetta & Manuel G. Cosio. (2019) Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with α1-Antitrypsin Deficiency. Scientific Reports 9:1.
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Filipe S. Cardoso & Constantine J. Karvellas. (2018) Respiratory Complications Before and After Liver Transplant. Journal of Intensive Care Medicine 34:5, pages 355-363.
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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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Joanna Chorostowska-Wynimko, Marion Wencker & Ildikó Horváth. (2019) The importance of effective registries in pulmonary diseases and how to optimize their output. Chronic Respiratory Disease 16, pages 147997311988177.
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Janet Fricker. (2018) Focussing on The Patient: Future Prospects in Alpha 1 Management. EMJ Respiratory, pages 38-46.
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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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Elena Miranda, Ilaria Ferrarotti, Romina Berardelli, Mattia Laffranchi, Marta Cerea, Fabrizio Gangemi, Imran Haq, Stefania Ottaviani, David A. Lomas, James A. Irving & Annamaria Fra. (2017) The pathological Trento variant of alpha-1-antitrypsin (E75V) shows nonclassical behaviour during polymerization. The FEBS Journal 284:13, pages 2110-2126.
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Margarida Torres Redondo, Elsa Campoa, Luis Ruano & Maria Sucena. (2017) Calidad de vida relacionada con la salud en pacientes con déficit de α1 antitripsina: estudio transversal. Archivos de Bronconeumología 53:2, pages 49-54.
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Margarida Torres Redondo, Elsa Campoa, Luis Ruano & Maria Sucena. (2017) Health-Related Quality of Life in Patients With Alpha-1 Antitrypsin Deficiency: A Cross Sectional Study. Archivos de Bronconeumología (English Edition) 53:2, pages 49-54.
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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 .
James K. Stoller. (2016) Detecting Alpha-1 Antitrypsin Deficiency. Annals of the American Thoracic Society 13:Supplement_4, pages S317-S325.
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Bruno Balbi, Ilaria Ferrarotti & Marc Miravitlles. (2016) Efficacy of augmentation therapy for emphysema associated with α 1 -antitrypsin deficiency: enough is enough . European Respiratory Journal 47:1, pages 35-38.
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