Official Journal of Research Center for Gastroenterology and Liver Diseases

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α1-Antitrypsin deficiency

Nature Reviews Disease Primers 2(1) (2016)

Catherine M. Greene; Stefan John Marciniak; Jeffrey H. Teckman; Ilaria Ferrarotti; Mark Brantly; David A. Lomas; James K. Stoller; Noel Gerard McElvaney

Role of alpha‐1 antitrypsin in human health and disease

Journal of Internal Medicine 276(4) (2014)

Frederick Joseph de Serres; Ignacio Blanco

Alpha-1 antitrypsin PiZ gene frequency and PiZZ genotype numbers worldwide: an update

International Journal of COPD Volume 12 (2017)

Ignacio Blanco; Patrícia Bueno; I. Diego; Sergio Pérez-Holanda; Francisco Casas Maldonado; Cristina Esquinas; Marc Miravitlles

Current and new challenges in occupational lung diseases

European Respiratory Review 26(146) (2017)

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

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; Patrícia Marques

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

International Journal of COPD Volume 13 (2017)

Ignacio Blanco; I. Diego; Patrícia Bueno; Eloy Fernandez; Francisco Casas Maldonado; Cristina Esquinas; Joan Bautista Soriano; Marc Miravitlles

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

Mutation Research/Reviews in Mutation Research 773 (2017)

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

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

International Journal of COPD Volume 12 (2017)

Ignacio Blanco; Patrícia Bueno; I. Diego; Sergio Pérez-Holanda; Beatriz Lara; Francisco Casas Maldonado; Cristina Esquinas; Marc Miravitlles

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; Silvia Cristina Vieira Gomes; Susana Seixas

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

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 Hazari; Mudasir Habib; Samirul Bashir; Nazia Hilal; Mariam Banday; Syed Asrafuzzaman; Khalid Majid Fazili

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

E uropean screening for alpha1‐antitrypsin deficiency in subjects with lung disease

The Clinical Respiratory Journal 11(1) (2015)

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

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

European Respiratory Review 24(135) (2015)

Joanna Chorostowska‐Wynimko

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

Advances in experimental medicine and biology 1031 (2017)

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

Alpha-1 Antitrypsin Deficiency Detection in a Portuguese Population

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

Leonor Meira; Rita Daniela Peixoto Boaventura; Susana Seixas; Maria Sucena

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 Gerard McElvaney; Tomás P. Carroll

Disease Modification in Emphysema Related to Alpha-1 Antitrypsin Deficiency

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

Joanna Chorostowska‐Wynimko

Advances in managing COPD related to α1‐antitrypsin deficiency: An under‐recognized genetic disorder

Allergy 73(11) (2018)

Timothy Craig; Maria Paula Henao

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 Andrake; Qifang Xu; Roland L. Dunbrack; Joannah Kim; Christopher Sanders

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 A. Nascimento; Beatriz Martins Manzano; Ivan Teruaki Ivanaga; Leandro Genehr Fritscher; Fernando Luiz Cavalcanti Lundgren; Marc Miravitlles; Heicilainy Del Carlos Gondim; Gildo Santos; Marcela Amorim Alves; Maria Vera Cruz de Oliveira; Altay Alves Lino de Souza; Maria Penha Uchoa Sales; José Roberto Jardim

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) (2018)

Jan Sieluk; Joseph F Levy; Robert A. Sandhaus; HENRY J. SILVERMAN; Kristen E. Holm; C. Daniel Mullins

Alpha1-Antitrypsin Deficiency

Clinics in Liver Disease 24(3) (2020)

Vignan Manne; Kris V. Kowdley

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

Geographies 3(3) (2023)

Lilian Alessa; James Valentine; Sean Moon; Christopher McComb; Sierra Hicks; V. E. Romanovsky; Ming Xiao; Andrew D Kliskey

The Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Pandemic: Are Africa’s Prevalence and Mortality Rates Relatively Low?

Advances in Virology 2022 (2022)

Solomon H Mariam

Geographical Distribution of COPD Prevalence in the Americas

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

Ignacio Blanco; I. Diego; Patrícia Bueno; Eloy Fernández; Francisco Maldonado; Cristina Esquinas; Joan Bautista Soriano; Marc Miravitlles

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

Pulmonology 26(4) (2020)

Maria Sucena; J. Gomes; Catarina Guimarães; Marc Miravitlles

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 Gómez‐Mariano; José Antonio Pérez Pérez; Beatriz Baladrón; María Torres‐Durán; Francisco Javier Michel; Raquel Saez; José María Hernández Pérez; Irene Belmonte; Francisco Rodríguez‐Frias; Ignacio Blanco; Pavel Strnad; Sabina M Janciauskiene; Beatriz Martínez–Delgado

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

Hepatitis Monthly 13(2) (2013)

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

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 Abdelmoti Abu Rmilah; Robert Fencl; Kymberly D. S. Watt; Michael J. Krowka; Russell H. Wiesner; David L. Murray; Scott L. Nyberg; Michael D. Leise

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

BMC Pulmonary Medicine 25(1) (2025)

Beatriz Ferraz; Maria Sucena; Margarida Fonseca Cardoso; Alice Margaret Turner; José María Hernández Pérez; María Torres‐Durán; Hanan A. Tanash; Carlota Rodríguez‐García; Jens‐Ulrik Stæhr Jensen; Angelo Guido Corsico; José Luís López-Campos; Kenneth R. Chapman; Christian Friedrich Clarenbach; Joana Gomes; Marc Miravitlles; Beatriz Lara