Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015

BACKGROUND: Alpha-1-antitrypsin deficiency (AATD) is an autosomal codominant inherited disease that is significantly underdiagnosed. We have previously shown that the combination of an awareness campaign with the offer of free diagnostic testing results in the detection of a relevant number of sever...

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Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: Greulich, Timm, Nell, Christoph, Herr, Christian, Vogelmeier, Claus, Kotke, Viktor, Wiedmann, Stefan, Wencker, Marion, Bals, Robert, Koczulla, Andreas Rembert
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Research
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4901499/
https://ncbi.nlm.nih.gov/pubmed/27282198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0453-8
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