Alpha-1-antitrypsin deficiency: current concepts.

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Published in Lung on June 12, 2007

Authors

Alan T Mulgrew1, Clifford C Taggart, N Gerry McElvaney

Author Affiliations

1: Respiratory Division, University of British Columbia, Diamond Health Centre, 2775 Laurel St, Vancouver, BC, Canada, V5Z1M9. alan.mulgrew@vch.ca

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alpha1-Antitrypsin deficiency . 6: new and emerging treatments for alpha1-antitrypsin deficiency. Thorax (2004) 0.86

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Leukocyte kinetics in the human lung: role of exercise and catecholamines. J Appl Physiol Respir Environ Exerc Physiol (1984) 0.84

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