Article
Alpha-1-antitrypsin deficiency: biochemistry and clinical manifestations.
Annals of medicine - 1 Oct 1996
Perlmutter D H
Abstract excerpt
Alpha-1-antitrypsin (alpha 1-AT) deficiency is a well known cause of emphysema in adults. A subgroup of deficient individuals develops liver injury during infancy and childhood. In fact, it is the most common genetic cause of liver disease in children. Although lung injury is due to the decrease in alpha 1-AT function in the lung, allowing uninhibited elastolytic destruction of its connective tissue integrity,...
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