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• W2080388245 abstract "Alpha-1-antitrypsin (a1-AT) deficiency is an inborn error of metabolism, which can cause liver disease. The condition is one of the most common genetic disorders in the Caucasian population. Here we review our experience with 21 children suffering from end-stage liver disease due to a1-AT deficiency. All children are PIZZ homozygotes. Nineteen of them initially presented with neonatal jaundice and two with hepatosplenomegaly in childhood. Twenty-five liver transplantations were performed. All children are currently alive at a median followup of 40 months. Liver replacement provides the only definite treatment for children with end-stage liver disease associated with a1-AT deficiency. Excellent results can be achieved by reducing waiting time for transplantation and by early referral to a liver transplant centre." @default.
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• W2080388245 date "2000-06-27" @default.
• W2080388245 modified "2023-10-18" @default.
• W2080388245 title "Liver transplantation for alpha-1-antitrypsin deficiency in children" @default.
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• W2080388245 doi "https://doi.org/10.1007/s001470050688" @default.
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