eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alpha-1-antitrypsin deficiency |
| Symptom | C0024115|lung disease |
| Sentences | 3 |
| PubMedID- 22252449 | The results presented in this study describe the initial proof-of-concept and optimization of a combinatorial therapeutic approach for the treatment of both liver and lung disease present in patients with aat deficiency. |
| 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- 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. |
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