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Portuguese consensus document for the management of alpha-1-antitrypsin deficiency

Lopes, A; Mineiro, M; Costa, F; Gomes, J; Santos, C; Antunes, C; Maia, D; Melo, R; Canotilho, M; Magalhães, E; Vicente, I; Valente, C; Gonçalves, B

Alpha-1-antitrypsin deficiency (AATD) is a genetic autosomal codominant disorder caused by mutations in SERPINA1 gene. It is one of the most prevalent genetic disorders, although it remains underdiagnosed. Whereas at international level there are several areas of consensus on this disorder, in Portugal, inter-hospital heterogeneity in clinical practice and resources available have been adding difficulties in re...

Date: 2018 | Origin: Repositório Aberto da Universidade do Porto

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