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

@inproceedings{Greulich2016ResultsFA,
  title={Results from a large targeted screening program for alpha-1-antitrypsin deficiency: 2003 - 2015},
  author={Timm Greulich and Christoph Nell and Christian Herr and Claus F Vogelmeier and Viktor Kotke and Stefan Wiedmann and Marion Wencker and Robert Bals and Andreas Rembert Koczulla},
  booktitle={Orphanet journal of rare diseases},
  year={2016}
}
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 (German AAT laboratory, University of Marburg) covering a period from August 2003 to… CONTINUE READING