Alpha-1-antitrypsin deficiency: Diagnosis, pathophysiology, and management
β Scribed by Jeffrey H. Teckman; Douglas Lindblad
- Book ID
- 107538251
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 272 KB
- Volume
- 8
- Category
- Article
- ISSN
- 1522-8037
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π SIMILAR VOLUMES
The results of a neonatal screening programme for alpha-1-antitrypsin deficiency are presented. Cord blood samples with an alpha-1-antitrypsin concentration below 1.628 mg/ml, as measured by an enzyme-linked immunosorbent assay method, were phenotyped by isoelectric focusing in polyacrylamide gels.
Alpha-1-antitrypsin (AAT) deficiency is a rare genetic disorder characterized by hepatitis in neonates, childhood and adulthood (protease inhibitor (PI)\*ZZ) and emphysema with or without hepatitis (PI\*ZZ)/(PI\*SS,SZ or null) in adulthood. We report the case of a female neonate born at 40Β weeks of