eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alpha-1-antitrypsin deficiency |
| Comorbidity | C0034067|pulmonary emphysema |
| Sentences | 2 |
| PubMedID- 24719685 | aat deficiency is associated with severe pulmonary emphysema and chronic obstructive pulmonary disease (copd) (3). |
| PubMedID- 23203040 | Three pools of exhaled breath condensate (ebc) from non-smokers plus healthy smokers (ns + hs, n = 45); chronic obstructive pulmonary disease (copd) without emphysema (copd, n = 15) and subjects with pulmonary emphysema associated with alpha(1)-antitrypsin deficiency (aatd, n = 23) were used for an exploratory proteomic study aimed at generating fingerprints of these groups that can be used in future pathophysiological and perhaps even clinical research. |
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