TY  - GEN 
AU  - Jardim, J. R.
AU  - Casas-Maldonado, F.
AU  - Fernandes, F. L. A.
AU  - Castellano, M. V. C. O.
AU  - Torres Durán, María Luisa
AU  - Miravitlles, M.
PY  - 2021
SN  - 1806-3713
UR  - http://hdl.handle.net/20.500.11940/18478
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
TI  - Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil
DO  - 10.36416/1806-3756/e20200380
KW  - CHUVI
KW  - IISGS
VL  - 47
ER  -