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Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency

by Wessel, Daan B.E., Thompson, Richard J., Gonzales, Emmanuel, Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Algoufi, Talal, Mazhar, Nejat, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer‐Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Luigi Calvo, Pier, Krebs‐Schmitt, Dorothee, Hartleif, Steffen, Woerd, Wendy L., Wang, Jian‐She, Li, Li‐ting, Durmaz, Özlem, Kerkar, Nanda, Hørby Jørgensen, Marianne, Fischer, Ryan, Jimenez‐Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noémie, Targa Ferreira, Cristina, Ordonez, Felipe, Wang, Heng, Sency, Valerie, Mo Kim, Kyung, Chen, Huey‐Ling, Carvalho, Elisa, Fabre, Alexandre, Quintero Bernabeu, Jesus, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Rao, Girish S., Horslen, Simon, Kamath, Binita M., Rogalidou, Maria, Karnsakul, Wikrom W., Hansen, Bettina, Verkade, Henkjan J.
Published in Hepatology (Baltimore, Md.) (01.08.2021)

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Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

by Felzen, Antonia, van Wessel, Daan B.E., Gonzales, Emmanuel, Thompson, Richard J., Jankowska, Irena, Shneider, Benjamin L., Sokal, Etienne, Grammatikopoulos, Tassos, Kadaristiana, Agustina, Jacquemin, Emmanuel, Spraul, Anne, Lipiński, Patryk, Czubkowski, Piotr, Rock, Nathalie, Shagrani, Mohammad, Broering, Dieter, Nicastro, Emanuele, Kelly, Deirdre, Nebbia, Gabriella, Arnell, Henrik, Fischler, Björn, Hulscher, Jan B.F., Serranti, Daniele, Arikan, Cigdem, Polat, Esra, Debray, Dominique, Lacaille, Florence, Goncalves, Cristina, Hierro, Loreto, Muñoz Bartolo, Gema, Mozer-Glassberg, Yael, Azaz, Amer, Brecelj, Jernej, Dezsőfi, Antal, Calvo, Pier Luigi, Grabhorn, Enke, Hartleif, Steffen, van der Woerd, Wendy J., Kamath, Binita M., Wang, Jian-She, Li, Liting, Durmaz, Özlem, Kerkar, Nanda, Jørgensen, Marianne Hørby, Fischer, Ryan, Jimenez-Rivera, Carolina, Alam, Seema, Cananzi, Mara, Laverdure, Noemie, Ferreira, Cristina Targa, Guerrero, Felipe Ordoñez, Wang, Heng, Sency, Valerie, Kim, Kyung Mo, Chen, Huey-Ling, de Carvalho, Elisa, Fabre, Alexandre, Bernabeu, Jesus Quintero, Zellos, Aglaia, Alonso, Estella M., Sokol, Ronald J., Suchy, Frederick J., Loomes, Kathleen M., McKiernan, Patrick J., Rosenthal, Philip, Turmelle, Yumirle, Horslen, Simon, Schwarz, Kathleen, Bezerra, Jorge A., Wang, Kasper, Hansen, Bettina E., Verkade, Henkjan J.
Published in JHEP reports (01.02.2023)

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