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44 resultsUpdated October 20, 2026
1

Characterization of the Mmalton carrier’s cohort within the EARCO (European Alpha- 1 Antitrypsin Research Collaboration) registry

BMC Pulmonary Medicine 25(1) (2025)

Beatriz D. Ferraz; Maria Sucena; Margarida Fonseca Cardoso; Alice M. Turner; José María Hernández-Pérez; María Torres-Duran; Hanan Tanash; Carlota Rodríguez-García; Jens-Ulrik Jensen; Angelo Corsico; José Luis López-Campos; Kenneth Chapman; Christian F. Clarenbach; Joana Gomes; Marc Miravitlles; Beatriz Lara

2

Clinical evolution of rare variants of Alpha1 Antitrypsin deficiency in Romania

Revista Medico-Chirurgicala 125(1) (2021)

Lavinia Davidescu

3

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum

The Application of Clinical Genetics Volume 14 (2021)

Susana Seixas; Patricia Isabel Marques

4

Role of alpha‐1 antitrypsin in human health and disease

Journal of Internal Medicine 276(4) (2014)

F. de Serres; I. Blanco

5

Muscle-Directed Gene Therapy for Alpha-1 Antitrypsin Deficiency

Muscle Gene Therapy (2019)

Alisha M. Gruntman; Terence R. Flotte

6

Implementation of European Alpha-1 Research Collaboration (EARCO) in Portugal: the future starts now

Pulmonology 26(4) (2020)

M. Sucena; J. Gomes; C. Guimarães; M. Miravitlles

7
8

Inherited alpha1-antitrypsin deficiency: Is the level the key message?

Revue des Maladies Respiratoires 31(8) (2014)

S. Ottaviani; M. Gorrini; I. Ferrarotti; M. Luisetti

9

The Efficiency of Alpha1-antitrypsin Deficiency Detection by Isoelectric Focusing Phenotypes in Relation to Serum Protein Concentrations in COPD Patients

International Journal of Electrochemical Science 11(6) (2016)

Noura Al-Jameil; Sree R. Isac; Rana Hassanato; Basma Al-Maarek; Eman Al-Ajian; Amina A. Hassan

10

Prevalence of Alpha-1 Antitrypsin Deficiency Alleles in a Lithuanian Cohort of Wheezing Small Children

Advances in Respiratory Medicine 92(4) (2024)

Edita Poluzioroviene; Joanna Chorostowska-Wynimko; Sigita Petraitiene; Arunas Strumila; Adriana Rozy; Aneta Zdral; Arunas Valiulis

11

Understanding alpha-1 antitrypsin deficiency: A review with an allergist's outlook

Allergy and Asthma Proceedings 38(2) (2017)

Maria Paula Henao; Timothy J. Craig

12

Association of α 1 Antitrypsin Phenotype and Development of Advanced Liver Disease and Pulmonary Complications Before and After Liver Transplantation

Transplantation 105(7) (2020)

Anan Abu Rmilah; Robert Fencl; Kymberly Watt; Michael Krowka; Russell Wiesner; David Murray; Scott Nyberg; Michael Leise

14

Prevalence of alpha-1 antitrypsin deficiency and allele frequency in patients with COPD in Brazil

Jornal Brasileiro de Pneumologia 42(5) (2016)

Rodrigo Russo; Laura Russo Zillmer; Oliver Augusto Nascimento; Beatriz Manzano; Ivan Teruaki Ivanaga; Leandro Fritscher; Fernando Lundgren; Marc Miravitlles; Heicilainy Del Carlos Gondim; Gildo Santos Junior; Marcela Amorim Alves; Maria Vera Oliveira; Altay Alves Lino de Souza; Maria Penha Uchoa Sales; José Roberto Jardim

15

Different Faces of Hepatocellular Carcinoma as a Health Threat in 21st Century

Hepatitis Monthly 13(2) (2013)

Behzad Yeganeh; Mohammad Hashemi; Fredrick J. de Serres; Marek J. Los; Saeid Ghavami

16

Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency

BMC Medical Genetics 20(1) (2019)

Friedrich Kueppers; Mark D. Andrake; Qifang Xu; Roland L. Dunbrack; Joannah Kim; Christopher L. Sanders

17

Toward a Permafrost Vulnerability Index for Critical Infrastructure, Community Resilience and National Security

Geographies 3(3) (2023)

Lilian Alessa; James Valentine; Sean Moon; Chris McComb; Sierra Hicks; Vladimir Romanovsky; Ming Xiao; Andrew Kliskey

18

Geographical distribution of COPD prevalence in Europe, estimated by an inverse distance weighting interpolation technique

International Journal of Chronic Obstructive Pulmonary Disease Volume 13 (2017)

Ignacio Blanco; Isidro Diego; Patricia Bueno; Eloy Fernandez; Francisco Casas-Maldonado; Cristina Esquinas; Joan B Soriano; Marc Miravitlles

19

Alpha-1 antitrypsin Pi*SZ genotype: estimated prevalence and number of SZ subjects worldwide

International Journal of Chronic Obstructive Pulmonary Disease Volume 12 (2017)

Ignacio Blanco; Patricia Bueno; Isidro Diego; Sergio Pérez-Holanda; Beatriz Lara; Francisco Casas-Maldonado; Cristina Esquinas; Marc Miravitlles

20

Alpha-1 antitrypsin Pi*Z gene frequency and Pi*ZZ genotype numbers worldwide: an update

International Journal of Chronic Obstructive Pulmonary Disease Volume 12 (2017)

Ignacio Blanco; Patricia Bueno; Isidro Diego; Sergio Pérez-Holanda; Francisco Casas-Maldonado; Cristina Esquinas; Marc Miravitlles

21

Costs of Medical Care Among Augmentation Therapy Users and Non-Users with Alpha-1 Antitrypsin Deficiency in the United States

Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation 6(1) (2019)

Jan Sieluk; Joseph Levy; Robert A. Sandhaus; Henry Silverman; Kristen E. Holm; C. Daniel Mullins

24

Recent advances in understanding and treating COPD related to α1-antitrypsin deficiency

Expert Review of Respiratory Medicine 10(12) (2016)

Maria Paula Henao; Timothy J. Craig

25

Novel variants of SERPIN1A gene: Interplay between alpha1-antitrypsin deficiency and chronic obstructive pulmonary disease

Respiratory Medicine 117 (2016)

Arif Bashir; Naveed Nazir Shah; Younis Mohammad Hazari; Mudasir Habib; Samirul Bashir; Nazia Hilal; Mariam Banday; Syed Asrafuzzaman; Khalid Majid Fazili

26

Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal

Respiratory Medicine 116 (2016)

Deolinda Silva; Maria João Oliveira; Miguel Guimarães; Ricardo Lima; Sílvia Gomes; Susana Seixas

27

European screening for alpha1‐antitrypsin deficiency in subjects with lung disease

The Clinical Respiratory Journal 11(1) (2015)

Timm Greulich; Alexander Averyanov; Ludmila Borsa; Eva Rozborilová; Dalius Vaicius; Tamás Major; Valentyna Chopyak; Voicu Tudorache; Tatyana Konstantinova; Sandra Camprubí

28

Alpha-1 Antitrypsin Deficiency: Introduction and History

Blanco's Overview of Alpha-1 Antitrypsin Deficiency (2017)

Ignacio Blanco

29

Genetic Epidemiology

Blanco's Overview of Alpha-1 Antitrypsin Deficiency (2017)

Ignacio Blanco

30

Current and new challenges in occupational lung diseases

European Respiratory Review 26(146) (2017)

Sara De Matteis; Dick Heederik; Alex Burdorf; Claudio Colosio; Paul Cullinan; Paul K. Henneberger; Ann Olsson; Anne Raynal; Jos Rooijackers; Tiina Santonen; Joaquin Sastre; Vivi Schlünssen; Martie van Tongeren; Torben Sigsgaard

31

Targeted screening programmes in COPD: how to identify individuals with α1-antitrypsin deficiency

European Respiratory Review 24(135) (2015)

Joanna Chorostowska-Wynimko

32

New cis -Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency

American Journal of Respiratory Cell and Molecular Biology 63(4) (2020)

Nerea Matamala; Gema Gomez-Mariano; Jose Antonio Perez; Beatriz Baladrón; María Torres-Durán; Francisco Javier Michel; Raquel Saez; Jose María Hernández-Pérez; Irene Belmonte; Francisco Rodriguez-Frias; Ignacio Blanco; Pavel Strnad; Sabina Janciauskiene; Beatriz Martinez-Delgado

33

Alpha1-Antitrypsin Deficiency

Clinics in Liver Disease 24(3) (2020)

Vignan Manne; Kris V. Kowdley

34

Variants of SERPINA1 and the increasing complexity of testing for alpha-1 antitrypsin deficiency

Therapeutic Advances in Chronic Disease 12_suppl (2021)

Kimberly E. Foil

35

The parallel lives of alpha1-antitrypsin deficiency and pulmonary alveolar proteinosis

Orphanet Journal of Rare Diseases 8(1) (2013)

Bruce C Trapnell; Maurizio Luisetti

36

Alpha-1-antitrypsin deficiency: Genetic variations, clinical manifestations and therapeutic interventions

Mutation Research/Reviews in Mutation Research 773 (2017)

Younis Mohammad Hazari; Arif Bashir; Mudasir Habib; Samirul Bashir; Huma Habib; M. Abul Qasim; Naveed Nazir Shah; Ehtishamul Haq; Jeffrey Teckman; Khalid Majid Fazili

37

Epidemiology of Rare Lung Diseases: The Challenges and Opportunities to Improve Research and Knowledge

Advances in Experimental Medicine and Biology (2017)

Cormac McCarthy; Beatriz Lara Gallego; Bruce C. Trapnell; Francis X. McCormack

38

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) (2021)

Alessandro N. Franciosi; Mansour A. Alkhunaizi; Andrew Woodsmith; Layali Aldaihani; Hamad Alkandari; Siobhán E. Lee; Laura T. Fee; Noel G. McElvaney; Tomás P. Carroll

39

Geographical Distribution of COPD Prevalence in the Americas

COPD: Journal of Chronic Obstructive Pulmonary Disease 15(4) (2018)

Ignacio Blanco; Isidro Diego; Patricia Bueno; Eloy Fernández; Francisco Casas-Maldonado; Cristina Esquinas; Joan B. Soriano; Marc Miravitlles

40

Lessons from the Past: Some Histories of Alpha-1 Antitrypsin Deficiency Before Its Discovery

COPD: Journal of Chronic Obstructive Pulmonary Disease 15(1) (2018)

A. Perciaccante; P. Charlier; C. Negri; A. Coralli; O. Appenzeller; R. Bianucci

41

Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population

COPD: Journal of Chronic Obstructive Pulmonary Disease 15(1) (2018)

Leonor Meira; Rita Boaventura; Susana Seixas; Maria Sucena

42

Alpha 1 -antitrypsin Deficiency—Increased Knowledge and Diagnostic Testing after Viewing Short Instructional Video

COPD: Journal of Chronic Obstructive Pulmonary Disease 14(1) (2016)

Joanna L. Nolte; Ali Ataya; Hunter Merrill; Mikala Childs; Mark Brantly

43

Disease Modification in Emphysema Related to Alpha-1 Antitrypsin Deficiency

COPD: Journal of Chronic Obstructive Pulmonary Disease 13(6) (2016)

Joanna Chorostowska-Wynimko

44

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

COPD: Journal of Chronic Obstructive Pulmonary Disease 12(sup1) (2015)

Beatriz Lara; Marc Miravitlles