eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alpha-1-antitrypsin deficiency |
| Comorbidity | C0024115|pulmonary disease |
| Sentences | 3 |
| PubMedID- 24713750 | Conclusions: these cases highlight the importance of understanding the limitations of a commonly used diagnostic algorithm, use of further gene sequencing in applicable cases, and the potential for underdiagnosis of aat deficiency in patients with chronic obstructive pulmonary disease. |
| PubMedID- 21060150 | These results provide new insight into the mechanism underlying the effect of aat augmentation therapy in the pulmonary disease associated with aat deficiency. |
| PubMedID- 22545487 | Conclusions: a case detection program of alpha-1 antitrypsin deficiency in patients with chronic obstructive pulmonary disease using quantitative methods is specific, but due to limited sensitivity should be used only in screening programs. |
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