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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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2020
Soggetti:
Review
Accesso online: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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