TY  - JOUR
AU  - Jardim, José R
AU  - Casas-Maldonado, Francisco
AU  - Fernandes, Frederico Leon Arrabal
AU  - Castellano, Maria Vera Cruz de O
AU  - Torres-Durán, María
AU  - Miravitlles, Marc
PY  - 2021
DO  - 10.36416/1806-3756/e20200380
UR  - https://hdl.handle.net/10668/26085
T2  - Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia
AB  - Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder caused by a mutation in the SERPINA1 gene, which encodes the protease inhibitor alpha-1 antitrypsin (AAT). Severe AATD predisposes individuals to COPD and liver disease. Early diagnosis...
LA  - en
KW  - Brazil
KW  - Humans
KW  - Mutation
KW  - alpha 1-Antitrypsin
KW  - alpha 1-Antitrypsin Deficiency
TI  - Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.
TY  - research article
VL  - 47
ER  -