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Detection of alpha-1 antitrypsin deficiency: the past, present and future

BACKGROUND: Most patients with alpha-1 antitrypsin deficiency remain undiagnosed and therefore do not benefit from current therapies or become eligible for research studies of new treatments under development. Improving the detection rate for AATD is therefore a high priority for the Alpha-1 Foundat...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Brantly, Mark, Campos, Michael, Davis, Angela M., D’Armiento, Jeanine, Goodman, Kenneth, Hanna, Kathi, O’Day, Miriam, Queenan, John, Sandhaus, Robert, Stoller, James, Strange, Charlie, Teckman, Jeffrey, Wanner, Adam
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7168939/
https://ncbi.nlm.nih.gov/pubmed/32306990
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01352-5
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