Citations (90)
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Michael Newnham, Mark Quinn & Alice M Turner. (2023) Estimating the Prevalence of AATD Patients in the UK to Identify Underdiagnosis and Determine the Eligibility for Potential Augmentation Therapy. International Journal of Chronic Obstructive Pulmonary Disease 18, pages 1197-1205.
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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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Auyon J. Ghosh & Brian D. Hobbs. (2022) Recent advancements in understanding the genetic involvement of alpha-1 antitrypsin deficiency associated lung disease: a look at future precision medicine approaches. Expert Review of Respiratory Medicine 16:2, pages 173-182.
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Cristina Martinez-González, Ignacio Blanco, Isidro Diego, Patricia Bueno & Marc Miravitlles. (2021) Estimated Prevalence and Number of PiMZ Genotypes of Alpha-1 Antitrypsin in Seventy-Four Countries Worldwide. International Journal of Chronic Obstructive Pulmonary Disease 16, pages 2617-2630.
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Naim Alkhouri & Samer Gawrieh. (2021) A perspective on RNA interference-based therapeutics for metabolic liver diseases. Expert Opinion on Investigational Drugs 30:3, pages 237-244.
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Anita Pye, Sheeba Khan, Tony Whitehouse & Alice M Turner. (2021) Personalizing liver targeted treatments and transplantation for patients with alpha-1 antitrypsin deficiency. Expert Review of Precision Medicine and Drug Development 6:1, pages 65-78.
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Mark Quinn, Paul Ellis, Anita Pye & Alice M Turner. (2020) Obstacles to Early Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency: Current Perspectives. Therapeutics and Clinical Risk Management 16, pages 1243-1255.
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Marc Miravitlles, Alexa Nuñez, Maria Torres-Durán, Francisco Casas-Maldonado, Juan Luis Rodríguez-Hermosa, José Luis López-Campos, Myriam Calle, Esther Rodríguez, Cristina Esquinas & Miriam Barrecheguren. (2020) The Importance of Reference Centers and Registries for Rare Diseases: The Example of Alpha-1 Antitrypsin Deficiency. COPD: Journal of Chronic Obstructive Pulmonary Disease 17:4, pages 346-354.
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Irene Belmonte, Alexa Nuñez, Miriam Barrecheguren, Cristina Esquinas, Mònica Pons, Rosa M López-Martínez, Gerard Ruiz, Albert Blanco-Grau, Roser Ferrer, Joan Genescà, Marc Miravitlles & Francisco Rodríguez-Frías. (2020) Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory. International Journal of Chronic Obstructive Pulmonary Disease 15, pages 2421-2431.
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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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Ignacio Blanco, Isidro Diego, Patricia Bueno, Eloy Fernández, Francisco Casas-Maldonado, Cristina Esquinas, Joan B. Soriano & Marc Miravitlles. (2018) Geographical Distribution of COPD Prevalence in the Americas. COPD: Journal of Chronic Obstructive Pulmonary Disease 15:4, pages 317-325.
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Ignacio Blanco, Isidro Diego, Patricia Bueno, Eloy Fernández, Francisco Casas-Maldonado, Cristina Esquinas, Joan B Soriano & Marc Miravitlles. (2018) Geographical distribution of COPD prevalence in Europe, estimated by an inverse distance weighting interpolation technique. International Journal of Chronic Obstructive Pulmonary Disease 13, pages 57-67.
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Jorge E. Lascano & Michael A. Campos. (2017) The important role of primary care providers in the detection of alpha-1 antitrypsin deficiency. Postgraduate Medicine 129:8, pages 889-895.
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Cristina Esquinas, Sabina Janciauskiene, Ricardo Gonzalo, Gemma Mas de Xaxars, Beata Olejnicka, Irene Belmonte, Miriam Barrecheguren, Esther Rodriguez, Alexa Nuñez, Francisco Rodriguez-Frias & Marc Miravitlles. (2017) Gene and miRNA expression profiles in PBMCs from patients with severe and mild emphysema and PiZZ alpha1-antitrypsin deficiency. International Journal of Chronic Obstructive Pulmonary Disease 12, pages 3381-3390.
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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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Articles from other publishers (75)
Ignacio Blanco, Isidro Diego, César Castañón, Patricia Bueno & Marc Miravitlles. (2023) Estimated Worldwide Prevalence of the PI*ZZ Alpha-1 Antitrypsin Genotype in Subjects With Chronic Obstructive Pulmonary Disease. Archivos de Bronconeumología 59:7, pages 427-434.
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Vikrant Sood, Eliza J. Lee, Vikram Raghu, Miguel Reyes‐Mugica, Claudia M. Salgado, James Squires & George Mazariegos. (2023)
Liver transplantation for alpha 1 antitrypsin deficiency (
A1ATD
) using a heterozygous donor: Outcomes and review of the literature
. Pediatric Transplantation 27:4.
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J.M. Hernández-Pérez, R. Ramos-Díaz, C. Vaquerizo-Pollino & J.A. Pérez. (2023) Frequency of alleles and genotypes associated with alpha-1 antitrypsin deficiency in clinical and general populations: Revelations about underdiagnosis. Pulmonology 29:3, pages 214-220.
Crossref
Crossref
Marc Miravitlles, Alice M. Turner, María Torres-Duran, Hanan Tanash, Carlota Rodríguez-García, José Luis López-Campos, Jan Chlumsky, Catarina Guimaraes, Juan Luis Rodríguez-Hermosa, Angelo Corsico, Cristina Martinez-González, José María Hernández-Pérez, Ana Bustamante, David G. Parr, Francisco Casas-Maldonado, Ana Hecimovic, Wim Janssens, Beatriz Lara, Miriam Barrecheguren, Cruz González, Jan Stolk, Cristina Esquinas & Christian F. Clarenbach. (2023) Characteristics of individuals with alpha-1 antitrypsin deficiency from Northern and Southern European countries: EARCO international registry. European Respiratory Journal 61:3, pages 2201949.
Crossref
Crossref
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.
Crossref
Crossref
Yılmaz Sezgin, Sinan Becel & Aşkın K Kaplan. (2023) Comparison of COVID-19 Outcomes With Alpha-1 Antitrypsin Deficiency Prevalence in Europe: A Cross-Sectional Study. Cureus.
Crossref
Crossref
Tobias Meischl, Karin Schmid-Scherzer, Florian Vafai-Tabrizi, Gert Wurzinger, Eva Traunmüller-Wurm, Kristina Kutics, Markus Rauter, Fikreta Grabcanovic-Musija, Simona Müller, Norbert Kaufmann, Judith Löffler-Ragg, Arschang Valipour & Georg-Christian Funk. (2023) The impact of diagnostic delay on survival in alpha-1-antitrypsin deficiency: results from the Austrian Alpha-1 Lung Registry. Respiratory Research 24:1.
Crossref
Crossref
Olivier Guillaud, Jérôme Dumortier, Eduardo Couchonnal-Bedoya & Mathias Ruiz. (2023) Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests. Diagnostics 13:2, pages 256.
Crossref
Crossref
Malin Fromme & Pavel Strnad. 2023. Comprehensive Guide to Hepatitis Advances. Comprehensive Guide to Hepatitis Advances
473
483
.
Victoria Therese Mücke, Janett Fischer, Marcus Maximilian Mücke, Alexander Teumer, Alexander Koch, Johannes Vermehren, Malin Fromme, Stefan Zeuzem, Christian Trautwein, Christoph Sarrazin, Thomas Berg, Biaohuan Zhou & Karim Hamesch. (2022) Association of Alpha-1 Antitrypsin Pi*Z Allele Frequency and Progressive Liver Fibrosis in Two Chronic Hepatitis C Cohorts. Journal of Clinical Medicine 12:1, pages 253.
Crossref
Crossref
Marc Miravitlles, Alice M. Turner, María Torres-Duran, Hanan Tanash, Carlota Rodríguez-García, José Luis López-Campos, Jan Chlumsky, Catarina Guimaraes, Juan Luis Rodríguez-Hermosa, Angelo Corsico, Cristina Martinez-González, José María Hernández-Pérez, Ana Bustamante, David G. Parr, Francisco Casas-Maldonado, Ana Hecimovic, Wim Janssens, Beatriz Lara, Miriam Barrecheguren, Cruz González, Jan Stolk, Cristina Esquinas & Christian F. Clarenbach. (2022) Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry. Respiratory Research 23:1.
Crossref
Crossref
Alessandro N. Franciosi, James Ralph, Naoimh J. O'Farrell, Colm Buckley, Christian Gulmann, Marina O'Kane, Tomás P. Carroll & Noel G. McElvaney. (2022) Alpha-1 antitrypsin deficiency–associated panniculitis. Journal of the American Academy of Dermatology 87:4, pages 825-832.
Crossref
Crossref
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.
Crossref
Crossref
María Torres-Durán, José Luis López-Campos, Juan Luis Rodríguez-Hermosa, Cristina Esquinas, Cristina Martínez-González, José María Hernández-Pérez, Carlota Rodríguez, Ana Bustamante, Francisco Casas-Maldonado, Miriam Barrecheguren, Cruz González & Marc Miravitlles. (2022)
Demographic and clinical characteristics of patients with α
1
-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO
. ERJ Open Research 8:3, pages 00213-2022.
Crossref
Crossref
J.M. Hernández-Pérez & C.V. López-Charry. (2022) Response to the article A population-based survey of the prevalence and risk factors of chronic obstructive pulmonary disease in Shanxi province (China). Revista Clínica Española (English Edition) 222:4, pages 253.
Crossref
Crossref
José María Hernández-Pérez & Claudia Viviana López-Charry. (2022) Respuesta al artículo Encuesta poblacional sobre la prevalencia y los factores de riesgo de la enfermedad pulmonar obstructiva crónica en la provincia de Shanxi (China). Revista Clínica Española 222:4, pages 253.
Crossref
Crossref
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.
Crossref
Crossref
Ivanna Shymanska, Оlena Trutiak, Оlena Lychkovska, Halyna Makukh & Hayane Akopyan. (2022) Genetic testing of allelic variants of PIZ (GLU342Lys, RS28929474) and PIS (GLU264Val, RS17580) of SERPINA1 gene in children with bronchial asthma. EUREKA: Life Sciences:2, pages 36-44.
Crossref
Crossref
Auyon J. Ghosh, Brian D. Hobbs, Matthew MollAabida Saferali, Adel BoueizJeong H. Yun, Frank SciurbaLucas BarwickAndrew H. LimperKevin FlahertyGerard CrinerKevin K. BrownRobert Wise, Fernando J. Martinez, David Lomas, Peter J. CastaldiVincent J. CareyDawn L. DeMeoMichael H. Cho, Edwin K. SilvermanCraig P. Hersh, James D. Crapo, Edwin K. Silverman, Barry J. Make, Elizabeth A. Regan, Terri H. Beaty, Peter J. Castaldi, Michael H. Cho, Dawn L. DeMeo, Adel El-Boueiz, Marilyn G. Foreman, Auyon J. Ghosh, Lystra P. Hayden, Craig P. Hersh, Jacqueline Hetmanski, Brian D. Hobbs, John E. Hokanson, Wonji Kim, Nan Laird, Christoph Lange, Sharon M. Lutz, Merry-Lynn McDonald, Dmitry Prokopenko, Matthew Moll, Jarrett Morrow, Dandi Qiao, Aabida Saferali, Phuwanat Sakornsakolpat, Emily S. Wan, Jeong H. Yun, Juan Pablo Centeno, Jean-Paul Charbonnier, Harvey O. Coxson, Craig J. Galban, MeiLan K. Han, Eric A. Hoffman, Stephen Humphries, Francine L. Jacobson, Philip F. Judy, Ella A. Kazerooni, Alex Kluiber, David A. Lynch, Pietro Nardelli, John D. NewellJr.Jr., Aleena Notary, Andrea Oh, James C. Ross, Raul San Jose Estepar, Joyce Schroeder, Jered Sieren, Berend C. Stoel, Juerg Tschirren, Edwin Van Beek, Bram van Ginneken, Eva van Rikxoort, Gonzalo Vegas Sanchez-Ferrero, Lucas Veitel, George R. Washko, Carla G. Wilson, Robert Jensen, Douglas Everett, Jim Crooks, Katherine Pratte, Matt Strand, Erin Austin, Gregory Kinney, Kendra A. Young, Surya P. Bhatt, Jessica Bon, Alejandro A. Diaz, Barry Make, Susan Murray, Elizabeth Regan, Xavier Soler, Russell P. Bowler, Katerina Kechris, Farnoush Banaei-Kashani, Jeffrey L. Curtis, Perry G. Pernicano, Nicola Hanania, Mustafa Atik, Aladin Boriek, Kalpatha Guntupalli, Elizabeth Guy, Amit Parulekar, Craig Hersh, George Washko, R. Graham Barr, John Austin, Belinda D’Souza, Byron Thomashow, Neil MacIntyreJr.Jr., H. Page McAdams, Lacey Washington, Charlene McEvoy, Joseph Tashjian, Robert Wise, Robert Brown, Nadia N. Hansel, Karen Horton, Allison Lambert, Nirupama Putcha, Richard Casaburi, Alessandra Adami, Matthew Budoff, Hans Fischer, Janos Porszasz, Harry Rossiter, William Stringer, Amir Sharafkhaneh, Charlie Lan, Christine Wendt, Brian Bell, Ken M. Kunisaki, Eric L. Flenaugh, Hirut Gebrekristos, Mario Ponce, Silanath Terpenning, Gloria Westney, Richard Rosiello, David Pace, Gerard Criner, David Ciccolella, Francis Cordova, Chandra Dass, Gilbert D’Alonzo, Parag Desai, Michael Jacobs, Steven Kelsen, Victor Kim, A. James Mamary, Nathaniel Marchetti, Aditi Satti, Kartik Shenoy, Robert M. Steiner, Alex Swift, Irene Swift, Maria Elena Vega-Sanchez, Mark Dransfield, William Bailey, Anand Iyer, Hrudaya Nath, J. Michael Wells, Douglas Conrad, Andrew Yen, Alejandro P. Comellas, Karin F. Hoth, John NewellJr.Jr., Brad Thompson, Ella Kazerooni, Wassim Labaki, Craig Galban, Dharshan Vummidi, Joanne Billings, Abbie Begnaud, Tadashi Allen, Frank Sciurba, Divay Chandra, Joel Weissfeld, Antonio Anzueto, Sandra Adams, Diego Maselli-Caceres, Mario E. Ruiz & Harjinder Singh. (2022) Alpha-1 Antitrypsin MZ Heterozygosity Is an Endotype of Chronic Obstructive Pulmonary Disease. American Journal of Respiratory and Critical Care Medicine 205:3, pages 313-323.
Crossref
Crossref
Seda Tural Onur, Neslihan Boyracı, Fatma Tokgöz Akyıl, Sinem Nedime Sökücü & Kaan Kara. (2022) Developing lung cancer in COPD: Possible role of carrying Alpha-1 antitrypsin deficiency variants. Respiratory Medicine Case Reports 38, pages 101667.
Crossref
Crossref
Alexa Núñez, Irene Belmonte, Elena Miranda, Miriam Barrecheguren, Georgina Farago, Eduardo Loeb, Mònica Pons, Francisco Rodríguez-Frías, Pablo Gabriel-Medina, Esther Rodríguez, Joan Genescà, Marc Miravitlles & Cristina Esquinas. (2021) Association between circulating alpha-1 antitrypsin polymers and lung and liver disease. Respiratory Research 22:1.
Crossref
Crossref
Igor Barjaktarevic & Marc Miravitlles. (2021) Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: a pro/con debate on a working hypothesis. BMC Pulmonary Medicine 21:1.
Crossref
Crossref
Inga Jarosch & Andreas Rembert Koczulla. (2021) Genetische Ursachen der chronisch obstruktiven Lungenerkrankung (COPD)Genetic causes of chronic obstructive pulmonary disease (COPD). Wiener klinisches Magazin 24:6, pages 234-239.
Crossref
Crossref
Aishath Fazleen & Tom Wilkinson. (2021)
The emerging role of proteases in α
1
-antitrypsin deficiency and beyond
. ERJ Open Research 7:4, pages 00494-2021.
Crossref
Crossref
Zuzana Rabekova, Sona Frankova, Milan Jirsa, Magdalena Neroldova, Mariia Lunova, Ondrej Fabian, Martin Kveton, David Varys, Klara Chmelova, Vera Adamkova, Jaroslav A. Hubacek, Julius Spicak, Dusan Merta & Jan Sperl. (2021) Alpha-1 Antitrypsin and Hepatocellular Carcinoma in Liver Cirrhosis: SERPINA1 MZ or MS Genotype Carriage Decreases the Risk. International Journal of Molecular Sciences 22:19, pages 10560.
Crossref
Crossref
Inga Jarosch & Andreas Rembert Koczulla. (2021) Genetische Ursachen der chronisch obstruktiven Lungenerkrankung (COPD)Genetic causes of chronic obstructive pulmonary disease (COPD). Der Pneumologe 18:4, pages 226-232.
Crossref
Crossref
Laura Pini, Laura Tiberio, Marianna Arici, Luciano Corda, Jordan Giordani, Elena Bargagli & Claudio Tantucci. (2021) Z-alpha1-antitrypsin polymers and small airways disease: a new paradigm in alfa-1 anti-trypsin deficiency-related COPD development?. Monaldi Archives for Chest Disease 91:4.
Crossref
Crossref
Mònica Pons, Alexa Núñez, Cristina Esquinas, María Torres-Durán, Juan Rodríguez-Hermosa, Myriam Calle, Ramón Tubio-Pérez, Irene Belmonte, Francisco Rodríguez-Frías, Esther Rodríguez, Joan Genescà, Marc Miravitlles & Miriam Barrecheguren. (2021) Utility of Transient Elastography for the Screening of Liver Disease in Patients with Alpha1-Antitrypsin Deficiency. Journal of Clinical Medicine 10:8, pages 1724.
Crossref
Crossref
Laura Pini, Giovanni Paoletti, Enrico Heffler, Claudio Tantucci & Francesca Puggioni. (2021) Alpha1-antitrypsin deficiency and asthma. Current Opinion in Allergy & Clinical Immunology 21:1, pages 46-51.
Crossref
Crossref
Matthew J. McNulty, David Z. Silberstein, Brooks T. Kuhn, Hal S. Padgett, Somen Nandi, Karen A. McDonald & Carroll E. Cross. (2021) Alpha-1 antitrypsin deficiency and recombinant protein sources with focus on plant sources: Updates, challenges and perspectives. Free Radical Biology and Medicine 163, pages 10-30.
Crossref
Crossref
Miriam Barrecheguren, María Torres-Duran, Francisco Casas-Maldonado & Marc Miravitlles. (2021) Implantación en España del nuevo registro internacional de déficit de alfa-1-antitripsina European Alpha-1-Research Collaboration (EARCO). Archivos de Bronconeumología 57:2, pages 81-82.
Crossref
Crossref
Miriam Barrecheguren, María Torres-Duran, Francisco Casas-Maldonado & Marc Miravitlles. (2021) Spanish implementation of the new international alpha-1 anitrypsin deficiency international registry: The European Alpha-1 Research Collaboration (EARCO). Archivos de Bronconeumología (English Edition) 57:2, pages 81-82.
Crossref
Crossref
Vickram Tejwani & James K. Stoller. (2021) The spectrum of clinical sequelae associated with alpha-1 antitrypsin deficiency. Therapeutic Advances in Chronic Disease 12_suppl, pages 204062232199569.
Crossref
Crossref
Ramón A. Tubío-Pérez, María Torres-Durán, Alberto Fernández-Villar & Alberto Ruano-Raviña. (2021) Alpha-1 antitrypsin deficiency and risk of lung cancer: A systematic review. Translational Oncology 14:1, pages 100914.
Crossref
Crossref
Jose Luis Lopez-Campos, Francisco Casas-Maldonado, Maria Torres-Duran, Agustin Medina-Gonzálvez, Maria Luisa Rodriguez-Fidalgo, Ines Carrascosa, Myriam Calle, Lourdes Osaba, Noelia Rapun, Estrella Drobnic & Marc Miravitlles. (2021) Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency. Archivos de Bronconeumología 57:1, pages 42-50.
Crossref
Crossref
Jose Luis Lopez-Campos, Francisco Casas-Maldonado, Maria Torres-Duran, Agustin Medina-Gonzálvez, Maria Luisa Rodriguez-Fidalgo, Ines Carrascosa, Myriam Calle, Lourdes Osaba, Noelia Rapun, Estrella Drobnic & Marc Miravitlles. (2021) Results of a Diagnostic Procedure Based on Multiplex Technology on Dried Blood Spots and Buccal Swabs for Subjects With Suspected Alpha1 Antitrypsin Deficiency. Archivos de Bronconeumología (English Edition) 57:1, pages 42-50.
Crossref
Crossref
Reka Lorincz & David T. Curiel. (2020) Advances in Alpha-1 Antitrypsin Gene Therapy. American Journal of Respiratory Cell and Molecular Biology 63:5, pages 560-570.
Crossref
Crossref
Miriam Barrecheguren, Karen O'Hara, Marion Wilkens, Jeanette Boyd, Ewa Kolda, Beatriz Lara, Joanna Chorostowska-Wynimko, Ilaria Ferrarotti, Jan Chlumský, Christian Clarenbach, Timm Greulich, Marc Miravitlles & Maria Sucena. (2020)
Research priorities in α
1
-antitrypsin deficiency: results of a patients' and healthcare providers' international survey from the EARCO Clinical Research Collaboration
. ERJ Open Research 6:4, pages 00523-2020.
Crossref
Crossref
Ignacio Blanco, Isidro Diego, Patricia Bueno, Sergio Pérez-Holanda, Francisco Casas-Maldonado & Marc Miravitlles. (2020)
Prevalence of α
1
-antitrypsin PiZZ genotypes in patients with COPD in Europe: a systematic review
. European Respiratory Review 29:157, pages 200014.
Crossref
Crossref
Anna V. Kiseleva, Marina V. Klimushina, Evgeniia A. Sotnikova, Mikhail G. Divashuk, Alexandra I. Ershova, Olga P. Skirko, Olga V. Kurilova, Anastasia A. Zharikova, Eleonora Yu. Khlebus, Irina A. Efimova, Maria S. Pokrovskaya, Petr A. Slominsky, Svetlana A. Shalnova, Alexey N. Meshkov & Oxana M. Drapkina. (2020) A Data-Driven Approach to Carrier Screening for Common Recessive Diseases. Journal of Personalized Medicine 10:3, pages 140.
Crossref
Crossref
Elizabeth Sapey, Zehra Yonel, Ross Edgar, Sabrina Parmar, Stephanie Hobbins, Paul Newby, Diana Crossley, Adam Usher, Sarah Johnson, Georgia M. Walton, Adam McGuinness, Iain Chapple & Robert Stockley. (2020) The clinical and inflammatory relationships between periodontitis and chronic obstructive pulmonary disease. Journal of Clinical Periodontology 47:9, pages 1040-1052.
Crossref
Crossref
Vignan Manne & Kris V. Kowdley. (2020) Alpha1-Antitrypsin Deficiency. Clinics in Liver Disease 24:3, pages 483-492.
Crossref
Crossref
Srinu Tumpara, Beatriz Martinez-Delgado, Gema Gomez-Mariano, Bin Liu, David S. DeLuca, Elena Korenbaum, Danny Jonigk, Frank Jugert, Florian M. Wurm, Maria J. Wurm, Tobias Welte & Sabina Janciauskiene. (2020) The Delivery of α1-Antitrypsin Therapy Through Transepidermal Route: Worthwhile to Explore. Frontiers in Pharmacology 11.
Crossref
Crossref
Luis Carreto, Meghan Morrison, Jackie Donovan, Simon Finch, Gan Liang Tan, Tom Fardon, Robert Wilson, Elisabeth Furrie, Michael Loebinger & James D Chalmers. (2020) Utility of routine screening for alpha-1 antitrypsin deficiency in patients with bronchiectasis. Thorax 75:7, pages 592-593.
Crossref
Crossref
Andre Mattman, Brian M. Gilfix, Sharon Xuehui Chen, Mari L. DeMarco, Barry D. Kyle, Michelle L. Parker, Terence A. Agbor, Benjamin Jung, Shamini Selvarajah, Vilte E. Barakauskas, Andrea K. Vaags, Mathew P. Estey, Tanya N. Nelson & Marsha D. Speevak. (2020) Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison. Clinical Biochemistry 81, pages 27-33.
Crossref
Crossref
Sharon Chen, Mari L. DeMarco, Mathew P. Estey, Barry Kyle, Michelle L. Parker, Terence A. Agbor, Patricia Kawada, Marsha Speevak, Tanya N. Nelson & Andre Mattman. (2020) NullCanada: A novel α1-antitrypsin allele with in cis variants Glu366Lys and Ile100Asn. Clinical Biochemistry 79, pages 23-27.
Crossref
Crossref
Pavel StrnadNoel G. McElvaneyDavid A. Lomas. (2020)
Alpha
1
-Antitrypsin Deficiency
. New England Journal of Medicine 382:15, pages 1443-1455.
Crossref
Crossref
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.
Crossref
Crossref
Jack Dummer, Claudia C. Dobler, Mark Holmes, Daniel Chambers, Ian A. Yang, Lianne Parkin, Sheree Smith, Peter Wark, Anouk Dev, Sandra Hodge, Eli Dabscheck, Julian Gooi, Sameh Samuel, Steven Knowles & Anne E. Holland. (2020) Diagnosis and treatment of lung disease associated with alpha one‐antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand*. Respirology 25:3, pages 321-335.
Crossref
Crossref
Timm Greulich, Alan Altraja, Miriam Barrecheguren, Robert Bals, Jan Chlumsky, Joanna Chorostowska-Wynimko, Christian Clarenbach, Luciano Corda, Angelo Guido Corsico, Ilaria Ferrarotti, Cristina Esquinas, Caroline Gouder, Ana Hećimović, Aleksandra Ilic, Yavor Ivanov, Sabina Janciauskiene, Wim Janssens, Malcolm Kohler, Alvils Krams, Beatriz Lara, Ravi Mahadeva, Gerry McElvaney, Jean-François Mornex, Karen O'Hara, David Parr, Eava Piitulainen, Karin Schmid-Scherzer, Niels Seersholm, Robert A. Stockley, Jan Stolk, Maria Sucena, Hanan Tanash, Alice Turner, Ruxandra Ulmeanu, Marion Wilkens, Arzu Yorgancioğlu, Ana Zaharie & Marc Miravitlles. (2020)
Protocol for the EARCO Registry: a pan-European observational study in patients with α
1
-antitrypsin deficiency
. ERJ Open Research 6:1, pages 00181-2019.
Crossref
Crossref
Carolin Lackner & Alexander S. Knisely. 2020. Pathologie. Pathologie
63
116
.
Vítor Magno Pereira, Karim Hamesch & Pavel Strnad. 2020. Liver Elastography. Liver Elastography
187
195
.
Cláudia Henrique da Costa, Arnaldo José Noronha Filho, Rosa Maria Fernambel Marques e Silva, Thaís Ferrari da Cruz, Valeria de Oliveira Monteiro, Margareth Pio & Rogério Lopes Rufino. (2019) Alpha 1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease patients: is systematic screening necessary?. BMC Research Notes 12:1.
Crossref
Crossref
Alessandro N Franciosi, Tomás P Carroll & Noel G McElvaney. (2019) Pitfalls and caveats in α1-antitrypsin deficiency testing: a guide for clinicians. The Lancet Respiratory Medicine 7:12, pages 1059-1067.
Crossref
Crossref
José María Hernández Pérez & Claudia Viviana López Charry. (2019) Respuesta al artículo prevalencia y características de la enfermedad pulmonar obstructiva crónica en no fumadores. Atención Primaria 51:9, pages 591.
Crossref
Crossref
Sabina Janciauskiene & Tobias Welte. 2019.
α
1
-Antitrypsin Deficiency
.
α
1
-Antitrypsin Deficiency
159
178
.
Brian D. Hobbs, Edwin K. Silverman & Michael H. Cho. 2019.
α
1
-Antitrypsin Deficiency
.
α
1
-Antitrypsin Deficiency
27
38
.
Diana Crossley, Robert Stockley & Elizabeth Sapey. (2019) Alpha-1 Antitrypsin Deficiency and Accelerated Aging: A New Model for an Old Disease?. Drugs & Aging 36:9, pages 823-840.
Crossref
Crossref
Pavel Strnad, Stephan Buch, Karim Hamesch, Janett Fischer, Jonas Rosendahl, Renate Schmelz, Stefan Brueckner, Mario Brosch, Carolin V Heimes, Vivien Woditsch, David Scholten, Hans Dieter Nischalke, Sabina Janciauskiene, Mattias Mandorfer, Michael Trauner, Michael J Way, Andrew McQuillin, Matthias C Reichert, Marcin Krawczyk, Markus Casper, Frank Lammert, Felix Braun, Witigo von Schönfels, Sebastian Hinz, Greta Burmeister, Claus Hellerbrand, Andreas Teufel, Alexandra Feldman, Joern M Schattenberg, Heike Bantel, Anita Pathil, Muenevver Demir, Johannes Kluwe, Tobias Boettler, Monika Ridinger, Norbert Wodarz, Michael Soyka, Marcella Rietschel, Falk Kiefer, Thomas Weber, Silke Marhenke, Arndt Vogel, Holger Hinrichsen, Ali Canbay, Martin Schlattjan, Katharina Sosnowsky, Christoph Sarrazin, Johann von Felden, Andreas Geier, Pierre Deltenre, Bence Sipos, Clemens Schafmayer, Michael Nothnagel, Elmar Aigner, Christian Datz, Felix Stickel, Marsha Yvonne Morgan, Jochen Hampe, Thomas Berg & Christian Trautwein. (2019) Heterozygous carriage of the alpha1-antitrypsin Pi*Z variant increases the risk to develop liver cirrhosis. Gut 68:6, pages 1099-1107.
Crossref
Crossref
Ildikó Horváth, Maria Canotilho, Jan Chlumský, Joanna Chorostowska-Wynimko, Luciano Corda, Eric Derom, Joachim H. Ficker, Meinhard Kneussl, Marc Miravitlles, Maria Sucena, Gabriel Thabut, Alice M. Turner, Emily van ’t Wout & N. Gerard McElvaney. (2019)
Diagnosis and management of α
1
-antitrypsin deficiency in Europe: an expert survey
. ERJ Open Research 5:1, pages 00171-2018.
Crossref
Crossref
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.
Crossref
Crossref
Kuniaki Seyama, Toshihiro Nukiwa, Tadashi Sato, Masaru Suzuki, Satoshi Konno, Kazuhisa Takahashi, Masaharu Nishimura, Kimberly Steinmann, Susan Sorrells, Junliang Chen & Ken-ichi Hayashi. (2019) Safety and pharmacokinetics of Alpha-1 MP (Prolastin®-C) in Japanese patients with alpha1-antitrypsin (AAT) deficiency. Respiratory Investigation 57:1, pages 89-96.
Crossref
Crossref
Marinos Pericleous, Claire Kelly, Aftab Ala & Michael L. Schilsky. 2019. Clinical Epidemiology of Chronic Liver Diseases. Clinical Epidemiology of Chronic Liver Diseases
307
330
.
Andrea Gramegna, Stefano Aliberti, Marco Confalonieri, Angelo Corsico, Luca Richeldi, Carlo Vancheri & Francesco Blasi. (2018) Alpha-1 antitrypsin deficiency as a common treatable mechanism in chronic respiratory disorders and for conditions different from pulmonary emphysema? A commentary on the new European Respiratory Society statement. Multidisciplinary Respiratory Medicine 13:1.
Crossref
Crossref
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.
Crossref
Crossref
Timm Greulich, Francisco Rodríguez-Frias, Irene Belmonte, Andreas Klemmer, Claus F. Vogelmeier & Marc Miravitlles. (2018) Real world evaluation of a novel lateral flow assay (AlphaKit® QuickScreen) for the detection of alpha-1-antitrypsin deficiency. Respiratory Research 19:1.
Crossref
Crossref
Janet Fricker. (2018) Focussing on The Patient: Future Prospects in Alpha 1 Management. EMJ Respiratory, pages 38-46.
Crossref
Crossref
A. Nuñez, M. Barrecheguren, E. Rodríguez, M. Miravitlles & C. Esquinas. (2018) Diagnosis of alpha1-antitrypsin deficiency not just in severe COPD. Pulmonology 24:6, pages 351-353.
Crossref
Crossref
Leonie Diederichs, Christian Trautwein & Pavel Strnad. (2018) Nur 10 % der Patienten mit AATM erhalten eine korrekte Diagnose. Gastro-News 5:5, pages 44-48.
Crossref
Crossref
Wei Zhu, Lanfen Li, Mingjing Deng, Bo Wang, Mengfei Li, Guofang Ding, Zuisu Yang, Dan Medynski, Xiaotao Lin, Ying Ouyang, Jirui Lin, Luyuan Li & Xinli Lin. (2018)
Oxidation‐resistant and thermostable forms of alpha‐1 antitrypsin from
Escherichia coli
inclusion bodies
. FEBS Open Bio 8:10, pages 1711-1721.
Crossref
Crossref
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.
Crossref
Crossref
Joan B. Soriano, Sarah J. Lucas, Rupert Jones, Marc Miravitlles, Victoria Carter, Iain Small, David Price & Ravi Mahadeva. (2018)
Trends of testing for and diagnosis of α
1
-antitrypsin deficiency in the UK: more testing is needed
. European Respiratory Journal 52:1, pages 1800360.
Crossref
Crossref
Myriam Calle Rubio, Joan B. Soriano, José Luis López- Campos, Juan J. Soler-Cataluña, Bernardino Alcázar Navarrete, José Miguel Rodríguez González- Moro, Marc Miravitlles, Miriam Barrecheguren, Manuel E. Fuentes Ferrer & Juan Luis Rodriguez Hermosa. (2018) Testing for alpha-1 antitrypsin in COPD in outpatient respiratory clinics in Spain: A multilevel, cross-sectional analysis of the EPOCONSUL study. PLOS ONE 13:6, pages e0198777.
Crossref
Crossref
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.
Crossref
Crossref
Ignacio Blanco. 2017. Blanco's Overview of Alpha-1 Antitrypsin Deficiency. Blanco's Overview of Alpha-1 Antitrypsin Deficiency
89
101
.