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Artículo
Demographic and clinical characteristics of patients with α1-antitrypsin deficiency genotypes PI*ZZ and PI*SZ in the Spanish registry of EARCO
(European Respiratory Society, 2022-09-26)
Background The Spanish registry of α1-antitrypsin deficiency (AATD) integrated in the European Alpha-1 Research Collaboration (EARCO) provides information about the characteristics of patients, in particular those with the ...
Artículo
Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin defciency: a multinational cross‑sectional analysis
(Biomed Central LTD, 2022)
Introduction: Currently, strategies for improving alpha1 antitrypsin defciency (AATD) diagnosis are needed. Here we report the performance of a multinational multiplex-based genotyping test on dried blood spots and buccal ...
Artículo
Clinical and functional characteristics of individuals with alpha-1 antitrypsin deficiency: EARCO international registry
(BIOMED CENTRAL LTD, 2023)
Background Alpha-1 antitrypsin deficiency (AATD) is a rare disease that is associated with an increased risk of pulmonary emphysema. The European AATD Research Collaboration (EARCO) international registry was founded ...
Artículo
COVID-19’s impact on care practice for alpha-1-antitrypsin deficiency patients
(BIOMED CENTRAL LTD, 2023)
Background Patients with alpha-1 antitrypsin defciency (AATD), commonly categorized as a rare disease, have been afected by the changes in healthcare management brought about by COVID-19. This study’s aim was to identify ...