XVII CONGRESSO MINEIRO DE PNEUMOLOGIA E CIRURGIA TORÁCICA e VI CONGRESSO MINEIRO DE PNEUMOLOGIA PEDIÁTRICA
1º Dia - 10/10/25
2º Dia - 10/11/25
3º Dia - 10/9/25

Rastreio familiar - Deficiência de Alfa-1 Antitripsina Voltar

José Roberto Jardim

Mesa Redonda - DPOC: Diagnóstico e Abordagem Clínica - Giovanni Roncalli Caixeta Ribeito

Artigo Autor(es) Referência
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Alpha-1-Antitrypsin Deficiency Targeted Testing and Augmentation Therapy: A Canadian Thoracic Society Meta-Analysis and Clinical Practice Guideline. Hernandez Paul, Bossé Yohan, Bush Pam, Chapman Kenneth R, Maltais François, Penz Erika D, Walker Brandie L, Lal Avtar, Marciniuk Darcy D Chest. 2025 Apr; 167(Apr):1044-1063. doi: 10.1016/j.chest.2024.08.037. pii: S0012-3692(24)05129-8.
Detection of alpha-1 antitrypsin deficiency: a review. Aboussouan Loutfi S, Stoller James K Respiratory medicine. 2009 Mar; 103(Mar):335-41. doi: 10.1016/j.rmed.2008.10.006. pii: .
Detection of alpha-1 antitrypsin deficiency: the past, present and future. Brantly Mark, Campos Michael, Davis Angela M, D'Armiento Jeanine, Goodman Kenneth, Hanna Kathi, O'Day Miriam, Queenan John, Sandhaus Robert, Stoller James, Strange Charlie, Teckman Jeffrey, Wanner Adam Orphanet journal of rare diseases. 2020 04; 15(04):96. doi: 10.1186/s13023-020-01352-5. pii: .
Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis. Lopez-Campos José Luis, Osaba Lourdes, Czischke Karen, Jardim José R, Fernandez Acquier Mariano, Ali Abraham, Günen Hakan, Rapun Noelia, Drobnic Estrella, Miravitlles Marc Respiratory research. 2022 Jun; 23(Jun):152. doi: 10.1186/s12931-022-02074-x. pii: 152.
Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples. Belmonte Irene, Barrecheguren Miriam, Esquinas Cristina, Rodríguez Esther, Miravitlles Marc, Rodríguez-Frías Francisco Clinical chemistry and laboratory medicine. 2017 Aug; 55(Aug):1276-1283. doi: 10.1515/cclm-2016-0842. pii: /j/cclm.2017.55.issue-9/cclm-2016-0842/cclm-2016-0842.xml.
Identification of individuals with alpha-1-antitrypsin deficiency by a targeted screening program. Bals Robert, Koczulla Rembert, Kotke Viktor, Andress Juergen, Blackert Karlheinz, Vogelmeier Claus Respiratory medicine. 2007 Aug; 101(Aug):1708-14.
Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology. Ottaviani Stefania, Barzon Valentina, Buxens Amaya, Gorrini Marina, Larruskain Amaia, El Hamss Rachid, Balderacchi Alice M, Corsico Angelo G, Ferrarotti Ilaria Journal of clinical laboratory analysis. 2020 Mar; e23279. doi: 10.1002/jcla.23279. pii: .
Screening and familial testing of patients for alpha 1-antitrypsin deficiency. Hogarth D Kyle, Rachelefsky Gary Chest. 2008 Apr; 133(Apr):981-8. doi: 10.1378/chest.07-1001. pii: .
Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil. Jardim José R, Casas-Maldonado Francisco, Fernandes Frederico Leon Arrabal, Castellano Maria Vera Cruz de O, Torres-Durán María, Miravitlles Marc Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia. 2021 ; 47():e20200380. doi: 10.36416/1806-3756/e20200380. pii: e20200380.
[Alpha1-antitrypsin deficiency: situation in Spain and development of a screening program]. de la Roza Cristian, Lara Beatriz, Vilà Sara, Miravitlles Marc Archivos de bronconeumologia. 2006 Jun; 42(Jun):290-8.
Nenhuma revista foi definida para este congresso.