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  • Title: Alpha-1-antitrypsin deficiency and liver disease.
    Author: Propst T, Propst A, Dietze O, Judmaier G, Braunsteiner H, Vogel W.
    Journal: Dig Dis; 1994; 12(3):139-49. PubMed ID: 7988061.
    Abstract:
    Alpha-1-antitrypsin deficiency is a common autosomal recessive disorder associated with premature development of emphysema, liver cirrhosis and hepatocellular carcinoma. This article reviews the existing literature on alpha-1-antitrypsin deficiency, with an emphasis on recent developments. A description of the protein, gene structure and function of alpha-1-antitrypsin as well as clinical aspects are presented. Treatment issues are addressed and a framework for the diagnostic workup and management of patients with alpha-1-antitrypsin deficiency and chronic liver disease is provided.
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