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- W2079290779 abstract "α-1-Antitrypsin deficiency is one of the most common hereditary disorders. Cholestasis and cirrhosis in infants and emphysema in adults are the most important clinical manifestations. Prevention of liver disease is not possible; transplantation is reserved for cases of severe cirrhosis. A preventive measure to slow down pulmonary decline is the creation of a nonsmoking environment; therapy is augmentation. We recommend selective screening for children with hepatopathy or recurrent respiratory symptoms, in order to identify heterozygote and homozygote AT-deficient children, especially in view of promising therapeutic approaches currently under investigation. It should also be possible to conduct prospective studies with these individuals. General newborn screening is not yet justified." @default.
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- W2079290779 date "1992-07-01" @default.
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- W2079290779 title "α-1-Antitrypsin deficiency: a need for screening?" @default.
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- W2079290779 doi "https://doi.org/10.1016/0925-6164(92)90015-w" @default.
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