Neonatal screening for alpha-1-antitrypsin deficiency
| Autor: | J. Kimpen, J. Raus, E. Bosmans |
|---|---|
| Rok vydání: | 1988 |
| Předmět: |
Alpha 1-antitrypsin deficiency
business.industry Isoelectric focusing Highly pathogenic Infant Newborn Enzyme-Linked Immunosorbent Assay Fetal Blood medicine.disease Screening programme Andrology Cross-Sectional Studies Phenotype Belgium alpha 1-Antitrypsin Deficiency Cord blood Pediatrics Perinatology and Child Health Immunology medicine Humans Mass Screening business |
| Zdroj: | European Journal of Pediatrics. 148:86-88 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/bf00441823 |
| Popis: | 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. Abnormal phenotypes were found in 51% of this group as compared with 11.3% in a control group (P much less than 0.0001). Twenty subjects detected by the initial quantitative alpha-1-antitrypsin determination had a highly pathogenic phenotype (PiZZ, PiSS, PiSZ). In the control group only moderately affected individuals were found (PiMS, PiMZ). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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