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Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death
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 40 weeks of ges...
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Main Authors: | , , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Springer-Verlag
2010
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3016164/ https://ncbi.nlm.nih.gov/pubmed/20811907 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-010-1280-x |
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