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ORIGINAL RESEARCH

Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency; Comparison of the Characteristics of PISZ and PIZZ Individuals

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Read on this site (9)

Timm Greulich, Anna Albert, Werner Cassel, Tobias Boeselt, Erika Peychev, Andreas Klemmer, Francini Ferreira, Christian Clarenbach, Maria L Torres-Duran, Alice M Turner & Marc Miravitlles. (2022) Opinions and Attitudes of Pulmonologists About Augmentation Therapy in Patients with Alpha-1 Antitrypsin Deficiency. A Survey of the EARCO Group. International Journal of Chronic Obstructive Pulmonary Disease 17, pages 53-64.
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Isadora Suárez-Lorenzo, Elisa Hernández-Brito, Lourdes Almeida-Quintana, Cesar García-de Llanos, Nereida González-Quevedo, Teresa Carrillo-Díaz & Carlos Rodríguez-Gallego. (2022) Alpha-1 antitrypsin deficiency hidden in allegedly normal variants. Journal of Asthma 59:7, pages 1372-1375.
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Farah Mobeen, Ross G. Edgar, Anita Pye, Robert A. Stockley & Alice M. Turner. (2021) Relationship between Depression and Anxiety, Health Status and Lung Function in Patients with Alpha-1 Antitrypsin Deficiency. COPD: Journal of Chronic Obstructive Pulmonary Disease 18:6, pages 621-629.
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Gloria Pérez-Rubio, Enrique Ambrocio-Ortiz, Luis A López-Flores, Ana I Juárez-Martín, Luis Octavio Jiménez-Valverde, Susana Zoreque-Cabrera, Gustavo Galicia-Negrete, María Elena Ramírez-Díaz, Filiberto Cruz-Vicente, Manuel de Jesús Castillejos-López, Citlaltepetl Salinas-Lara, Rafael de Jesús Hernández-Zenteno, Alejandra Ramírez-Venegas & Ramcés Falfán-Valencia. (2020) Heterozygous Genotype rs17580 AT (PiS) in SERPINA1 is Associated with COPD Secondary to Biomass-Burning and Tobacco Smoking: A Case–Control and Populational Study. International Journal of Chronic Obstructive Pulmonary Disease 15, pages 1181-1190.
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Cristina Esquinas, Sonia Serreri, Miriam Barrecheguren, Esther Rodriguez, Alexa Nuñez, Francisco Casas-Maldonado, Ignacio Blanco, Pietro Pirina, Beatriz Lara & Marc Miravitlles. (2018) Long-term evolution of lung function in individuals with alpha-1 antitrypsin deficiency from the Spanish registry (REDAAT). International Journal of Chronic Obstructive Pulmonary Disease 13, pages 1001-1007.
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Ignacio Blanco, Patricia Bueno, Isidro Diego, Sergio Pérez-Holanda, Beatriz Lara, Francisco Casas-Maldonado, Cristina Esquinas & Marc Miravitlles. (2017) Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide. International Journal of Chronic Obstructive Pulmonary Disease 12, pages 1683-1694.
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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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Miriam Barrecheguren, Mónica Monteagudo, Pere Simonet, Carl Llor, Esther Rodriguez, Jaume Ferrer, Cristina Esquinas & Marc Miravitlles. (2016) Diagnosis of alpha-1 antitrypsin deficiency: a population-based study. International Journal of Chronic Obstructive Pulmonary Disease 11, pages 999-1004.
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Articles from other publishers (26)

Marc Miravitlles, Antonio Anzueto & Miriam Barrecheguren. (2023) Nine controversial questions about augmentation therapy for alpha-1 antitrypsin deficiency: a viewpoint. European Respiratory Review 32:170, pages 230170.
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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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Christina Louise Winther, Sofie Nyrann, Rasmus Gaardskaer Nielsen, Morten Duno, Klaus Birkelund Johansen, Thora Wesenberg HeltVibeke Brix Christensen. (2022) Disease Status at Diagnosis in Danish Children with α1-antitrypsin Deficiency. Journal of Pediatric Gastroenterology & Nutrition 75:5, pages 629-634.
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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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J.-F. Mornex, M. Balduyck, M. Bouchecareilh, A. Cuvelier, R. Epaud, M. Kerjouan, O. Le Rouzic, C. Pison, L. Plantier, M.-C. Pujazon, M. Reynaud-Gaubert, A. Toutain, B. Trumbic, M.-C. Willemin, M. Zysman, O. Brun, M. Campana, F. Chabot, V. Chamouard, M. Dechomet, J. Fauve, B. Girerd, C. Gnakamene, S. Lefrançois, J.-N. Lombard, B. Maitre, C. Maynié-François, A. Moerman, A. Payancé, P. Reix, D. Revel, M.-P. Revel, M. Schuers, P. Terrioux, D. Theron, F. Willersinn, V. Cottin & H. Mal. (2022) Atteinte pulmonaire du déficit en alpha-1 antitrypsine. Recommandations pratiques pour le diagnostic et la prise en charge. Revue des Maladies Respiratoires 39:7, pages 633-656.
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Malin Fromme, Carolin V. Schneider, Christian Trautwein, Nicola Brunetti-Pierri & Pavel Strnad. (2022) Alpha-1 antitrypsin deficiency: A re-surfacing adult liver disorder. Journal of Hepatology 76:4, pages 946-958.
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Malin Fromme, Carolin V Schneider, Vitor Pereira, Karim Hamesch, Monica Pons, Matthias C Reichert, Federica Benini, Paul Ellis, Katrine H Thorhauge, Mattias Mandorfer, Barbara Burbaum, Vivien Woditsch, Joanna Chorostowska-Wynimko, Jef Verbeek, Frederik Nevens, Joan Genesca, Marc Miravitlles, Alexa Nuñez, Benedikt Schaefer, Heinz Zoller, Sabina Janciauskiene, Nélia Abreu, Luís Jasmins, Rui Gaspar, Rodrigo Liberal, Guilherme Macedo, Ravi Mahadeva, Catarina Gomes, Kai Markus Schneider, Michael Trauner, Aleksander Krag, Bibek Gooptu, Douglas Thorburn, Aileen Marshall, John R Hurst, David A Lomas, Frank Lammert, Nadine T Gaisa, Virginia Clark, William Griffiths, Christian Trautwein, Alice M Turner, Noel G McElvaney & Pavel Strnad. (2022) Hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency. Gut 71:2, pages 415-423.
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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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Pavel StrnadNoel G. McElvaneyDavid A. Lomas. (2020) Alpha 1 -Antitrypsin Deficiency . New England Journal of Medicine 382:15, pages 1443-1455.
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I. Suárez-Lorenzo, F. Rodríguez de Castro, D. Cruz-Niesvaara, E. Herrera-Ramos, C. Rodríguez-Gallego & T. Carrillo-Diaz. (2018) Alpha 1 antitrypsin distribution in an allergic asthmatic population sensitized to house dust mites. Clinical and Translational Allergy 8:1.
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Article Editorial. (2018) Diagnosis and treatment of pulmonarydisease in α1-antitrypsin deficiency: a statement of European Respiratory Society. Russian Pulmonology 28:3, pages 273-295.
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Marc Miravitlles, Asger Dirksen, Ilaria Ferrarotti, Vladimir Koblizek, Peter Lange, Ravi Mahadeva, Noel G. McElvaney, David Parr, Eeva Piitulainen, Nicolas Roche, Jan Stolk, Gabriel Thabut, Alice Turner, Claus Vogelmeier & Robert A. Stockley. (2017) European Respiratory Society statement: diagnosis and treatment of pulmonary disease in α 1 -antitrypsin deficiency . European Respiratory Journal 50:5, pages 1700610.
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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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R. Garc?a-Palenzuela, R. Timiraos Carrasco, M.I. G?mez-Besteiro, G. Lavia, M. Lago Pose & B. Lara. (2017) Detecci?n del d?ficit de alfa-1 antitripsina: estudio en pacientes con enfermedad pulmonar obstructiva cr?nica diagnosticados en atenci?n primaria. SEMERGEN - Medicina de Familia 43:4, pages 289-294.
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Irene Belmonte, Miriam Barrecheguren, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles & Francisco Rodríguez-Frías. (2017) Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples. Clinical Chemistry and Laboratory Medicine (CCLM) 55:9.
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Beatriz Lara, Ignacio Blanco, María Teresa Martínez, Esther Rodríguez, Ana Bustamante, Francisco Casas, Sergio Cadenas, José M. Hernández, Lourdes Lázaro, María Torres, Sergio Curi, Cristina Esquinas, Francisco Dasí, Amparo Escribano, Inés Herrero, Beatriz Martínez-Delgado, Francisco Javier Michel, Francisco Rodríguez-Frías & Marc Miravitlles. (2017) Registro español de pacientes con déficit de alfa-1 antitripsina: evaluación de la base de datos y análisis de la población incluida. Archivos de Bronconeumología 53:1, pages 13-18.
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Beatriz Lara, Ignacio Blanco, María Teresa Martínez, Esther Rodríguez, Ana Bustamante, Francisco Casas, Sergio Cadenas, José M. Hernández, Lourdes Lázaro, María Torres, Sergio Curi, Cristina Esquinas, Francisco Dasí, Amparo Escribano, Inés Herrero, Beatriz Martínez-Delgado, Francisco Javier Michel, Francisco Rodríguez-Frías & Marc Miravitlles. (2017) Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis. Archivos de Bronconeumología (English Edition) 53:1, pages 13-18.
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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 143 157 .
Ignacio Blanco. 2017. Blanco's Overview of Alpha-1 Antitrypsin Deficiency. Blanco's Overview of Alpha-1 Antitrypsin Deficiency 115 128 .
Cormac McCarthy, Beatriz Lara Gallego, Bruce C. Trapnell & Francis X. McCormack. 2017. Rare Diseases Epidemiology: Update and Overview. Rare Diseases Epidemiology: Update and Overview 419 442 .
Cristina Esquinas, Miriam Barrecheguren, Maria Sucena, Esther Rodriguez, Sandra Fernandez & Marc Miravitlles. (2016) Practice and knowledge about diagnosis and treatment of alpha-1 antitrypsin deficiency in Spain and Portugal. BMC Pulmonary Medicine 16:1.
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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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B. Lara Gallego, S. Castillo Carullón, M.T. Martínez Martínez, M. García Reymundo & M. Miravitlles. (2016) Características de los casos incluidos en el Registro Español de Pacientes con déficit de alfa-1 antitripsina. Anales de Pediatría 84:4, pages 233-234.
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B. Lara, S. Castillo Carullón, M.T. Martínez Martínez, M. García Reymundo & M. Miravitlles. (2016) Profiles of cases included in the Spanish registry of patients with alpha-1 antitrypsin deficiency. Anales de Pediatría (English Edition) 84:4, pages 233-234.
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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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