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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Main Authors: Teckman, Jeffrey, Pardee, Erin, Howell, R. Rodney, Mannino, David, Sharp, Richard R., Brantly, Mark, Wanner, Adam, Lamson, Jamie
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2014
Teme:
Original Articles: Hepatology and Nutrition
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3901803/
https://ncbi.nlm.nih.gov/pubmed/24121147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MPG.0000000000000196
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