eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alpha-1-antitrypsin deficiency |
| Comorbidity | C0024115|lung disease |
| Sentences | 6 |
| PubMedID- 22971141 | Our aim was to determine the distribution of the a1atd phenotypes/alleles in patients with lung diseases as well as in the serbian population. |
| PubMedID- 24063809 | Recent understanding of the complexity of usual copd, as well as of the lung disease associated with aatd has indicated the range of different pathological and clinical phenotypes [22]. |
| PubMedID- 20695558 | (57) aat deficiency often leads to lung diseases, and clinical trials have been reported where patients are given aat infusions, which showed beneficial effects. |
| PubMedID- 22723858 | We studied both intracellular accumulation and defective secretion of aat in our cell models since these respectively relate to the major pathogenic drivers of the liver and lung disease associated with aat deficiency. |
| PubMedID- 24079310 | As a result, thousands of patients with lung disease associated with aatd have been safely treated [39,40]: a meta-analysis of observational studies confirmed efficacy with the decreasing decline of lung function in treated patients with an initial fev1 between 30 and 65% predicted [41]. |
| PubMedID- 24832005 | Usefulness of the cat, lcopd, eq-5d and copdss scales in understanding the impact of lung disease in patients with alpha-1 antitrypsin deficiency. |
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