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Alpha-1 antitrypsin deficiency: the European experience
Robert A Stockley1, Asger Dirksen, Jan Stolk
1Lung Investigation Unit, University Hospital Birmingham NHS Trust, Birmingham, United Kingdom. rob.stockley@uhb.nhs.uk
Abstract:
AATD is a European genetic condition that has disseminated along human migration routes. The discovery, function, phenotyping methodologies and biochemical mechanisms have been led by several European countries. The variable availability of augmentation therapy has permitted a better understanding of the natural history and the ability to deliver controlled clinical trials. The establishment of a worldwide registry remains central to the future of understanding and managing AATD.
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