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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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: 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
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Review
Accés en línia: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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