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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Detalles Bibliográficos
Autores principales: Kats-Ugurlu, Gursah, Hogeveen, Marije, Driessen, Ann, van den Ouweland, Ans M. W., de Kaa, Christina Hulsbergen-van
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3016164/
https://www.ncbi.nlm.nih.gov/pubmed/20811907
http://dx.doi.org/10.1007/s00431-010-1280-x

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