Publication: Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation
Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation
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Hamesch, K., Mandorfer, M., Pereira, V. M., Moeller, L. S., Pons, M., Dolman, G. E., Reichert, M. C., Schneider, C. V., Woditsch, V., Voss, J., Lindhauer, C., Fromme, M., Spivak, I., Guldiken, N., Zhou, B., Arslanow, A., Schaefer, B., Zoller, H., Aigner, E., … Stickel, F. (2019). Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation. Gastroenterology, 157, 705-719.e18. https://doi.org/10.1053/j.gastro.2019.05.013
Abstract
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BACKGROUND & AIMS Alpha-1 antitrypsin deficiency (AATD) is among the most common genetic disorders. Severe AATD is caused by a homozygous mutation in the SERPINA1 gene that encodes the Glu342Lys substitution (called the PiZ mutation, PiZZ genotype). Pi*ZZ carriers may develop lung and liver diseases. Mutation-associated lung disorders have been well studied, but less is known about the effects in liver. We assessed the liver disease burden and associated features in adults with this form of AATD. METHODS We collected data from 554 P
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- Hamesch, Karim
- Mandorfer, Mattias
- Pereira, Vítor M
- Moeller, Linda S
- Pons, Monica
- Dolman, Grace E
- Reichert, Matthias C
- Schneider, Carolin V
- Woditsch, Vivien
- Voss, Jessica
- Lindhauer, Cecilia
- Fromme, Malin
- Spivak, Igor
- Guldiken, Nurdan
- Zhou, Biaohuan
- Arslanow, Anita
- Schaefer, Benedikt
- Zoller, Heinz
- Aigner, Elmar
- Reiberger, Thomas
- Wetzel, Martin
- Siegmund, Britta
- Simões, Carolina
- Gaspar, Rui
- Maia, Luís
- Costa, Dalila
- Bento-Miranda, Mário
- van Helden, Josef
- Yagmur, Eray
- Bzdok, Danilo
- Stickel, Felix
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Hamesch, K., Mandorfer, M., Pereira, V. M., Moeller, L. S., Pons, M., Dolman, G. E., Reichert, M. C., Schneider, C. V., Woditsch, V., Voss, J., Lindhauer, C., Fromme, M., Spivak, I., Guldiken, N., Zhou, B., Arslanow, A., Schaefer, B., Zoller, H., Aigner, E., … Stickel, F. (2019). Liver Fibrosis and Metabolic Alterations in Adults With alpha-1-antitrypsin Deficiency Caused by the Pi*ZZ Mutation. Gastroenterology, 157, 705-719.e18. https://doi.org/10.1053/j.gastro.2019.05.013
