title: Clinical manifestations of alpha 1-antitrypsin deficiency.
abstract: Alpha 1-antitrypsin deficiency is the most common genetic cause of liver disease in infants and children and is the most common genetic disease for which liver transplantation is indicated. This article presents the clinical manifestations, diagnosis, treatment, and pathogenesis of alpha 1-antitrypsin deficiency.
authors.affiliation: Washington University School of Medicine, St. Louis, Missouri, USA.
authors.forename: D H
authors.initials: DH
authors.lastname: Perlmutter
mesh_terms: D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008107:Liver Diseases / Q000235:genetics*; D008171:Lung Diseases / Q000235:genetics*; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000235:genetics*; D012907:Smoking / Q000009:adverse effects; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin