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Appropriateness of Newborn Screening for α1-Antitrypsin Deficiency

OBJECTIVE: The Alpha-1 Foundation convened a workshop to consider the appropriateness of newborn screening for α-1-antitrypsin (AAT) deficiency. METHODS: A review of natural history and technical data was conducted. RESULTS: Homozygous ZZ AAT deficiency is a common genetic disease occurring in 1 in...

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Detalles Bibliográficos
Autores principales: Teckman, Jeffrey, Pardee, Erin, Howell, R. Rodney, Mannino, David, Sharp, Richard R., Brantly, Mark, Wanner, Adam, Lamson, Jamie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901803/
https://www.ncbi.nlm.nih.gov/pubmed/24121147
http://dx.doi.org/10.1097/MPG.0000000000000196