title: Alpha-1 antitrypsin deficiency: the European experience.
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.
authors.affiliation: Lung Investigation Unit, University Hospital Birmingham NHS Trust, Birmingham, United Kingdom. rob.stockley@uhb.nhs.uk
authors.forename: Robert A
authors.initials: RA
authors.lastname: Stockley
authors.forename: Asger
authors.initials: A
authors.lastname: Dirksen
authors.forename: Jan
authors.initials: J
authors.lastname: Stolk
mesh_terms: D005060:Europe; D006801:Humans; D011859:Radiography; D012042:Registries; D019896:alpha 1-Antitrypsin Deficiency / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics