[Hereditary liver diseases].

H C Spangenberg; K Rösler; H E Blum

doi:10.1024/0040-5930.61.8.513

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[Hereditary liver diseases].

H C Spangenberg·K Rösler·H E Blum

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Abstract

In recent years the identification and characterization of gene defects underlying hereditary liver diseases lead to a better understanding of their pathogenesis. Heditary hemochromatosis, Wilson's disease and alpha1-antitrypsin deficiency are the most common hereditary liver diseases. While gene defects and disease manifestation may correlate, genetic testing is generally not contributing to diagnosis. This review summarizes the clinical manifestations, diagnosis and therapy of the most frequent hereditary liver diseases: hereditary hemochromatosis, Wilson's disease and alpha1-antitrypsin deficiency.

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Algorithms Female Hemochromatosis Hepatolenticular Degeneration Humans Liver Diseases Liver Transplantation Male Mutation Phenotype Phlebotomy Risk Factors alpha 1-Antitrypsin Deficiency Comparative Study English Abstract Journal Article Review

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H C Spangenberg, K Rösler, H E Blum. 2004. [Hereditary liver diseases].. https://doi.org/10.1024/0040-5930.61.8.513

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