Article
Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015.
Orphanet journal of rare diseases - 10 Jun 2016
Greulich Timm, Nell Christoph, Herr Christian, Vogelmeier Claus, Kotke Viktor, Wiedmann Stefan, Wencker Marion, Bals Robert, Koczulla Andreas Rembert
Abstract excerpt
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 severely deficient AATD patients. The present study provides an update on the results of our targeted screening program...
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