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TITLE: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
AUTHORS: Vogel, Georg F.; Mozer Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian She; Weghuber, Daniel; Wortmann, Saskia; ...More
PUBLISHED: 2023, SOURCE: GENETICS IN MEDICINE, VOLUME: 25, ISSUE: 6
INDEXED IN: Scopus WOS
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TITLE: Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
AUTHORS: 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; Lipinski, Patryk; Czubkowski, Piotr; Rock, Nathalie; Shagrani, Mohammad; Broering, Dieter; Nicastro, Emanuele; Kelly, Deirdre; Nebbia, Gabriella; Arnell, Henrik; Fischler, Bjoern; Hulscher, Jan B. F.; Serranti, Daniele; Arikan, Cigdem; Polat, Esra; Debray, Dominique; Lacaille, Florence; Goncalves, Cristina; Hierro, Loreto; Bartolo, Gema Munoz; Mozer Glassberg, Yael; Azaz, Amer; Brecelj, Jernej; Dezsofi, Antal; Calvo, Pier Luigi; Grabhorn, Enke; Hartleif, Steffen; van der Woerd, Wendy J.; Kamath, Binita M.; Wang, Jian She; Li, Liting; Durmaz, Ozlem; Kerkar, Nanda; Jorgensen, Marianne Horby; Fischer, Ryan; Jimenez Rivera, Carolina; Alam, Seema; Cananzi, Mara; Laverdure, Noemie; Ferreira, Cristina Targa; Guerrero, Felipe Ordonez; 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.; ...More
PUBLISHED: 2023, SOURCE: JHEP REPORTS, VOLUME: 5, ISSUE: 2
INDEXED IN: Scopus WOS
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TITLE: Genotype correlates with the natural history of severe bile salt export pump deficiency
AUTHORS: Daan B E van Wessel; Richard J Thompson; Emmanuel Gonzales; Irena Jankowska; Etienne Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Emmanuel Jacquemin; Anne Spraul; Patryk Lipinski; Piotr Czubkowski; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre A Kelly; Gabriella Nebbia; Henrik Arnell; Bjoern Fischler; Jan B F Hulscher; Daniele Serranti; Cigdem Arikan; Esra Polat; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema Munoz Bartolo; Yael Mozer Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsofi; Pier Luigi Calvo; Enke Grabhorn; Ekkehard Sturm; Wendy J van der Woerd; Binita M Kamath; Jian She Wang; Liting T Li; Oezlem Durmaz; Zerrin Onal; Ton M G Bunt; Bettina E Hansen; Henkjan J Verkade; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF HEPATOLOGY, VOLUME: 73, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium
AUTHORS: Daan van Wessel; Richard Thompson; Tassos Grammatikopoulos; Agustina Kadaristiana; Irena Jankowska; Patryk Lipineski; Piotr Czubkowski; Emmanuel Gonzales; Emmanuel Jacquemin; Anne Spraul; Etienne Sokal; Mohammad Ali Shagrani; Dieter Clemens Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre Kelly; Gabriella Nebbia; Henrik Arnell; Bjorn Fischler; Hulscher, JBF; Daniele Serranti; Cigdem Arikan; Esra Polat; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema M Munoz Bartolo; Yael Mozer Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsofi; Pier Luigi Calvo; Enke Grabhorn; Ekkehard Sturm; Wendy van der Woerd; Binita M Kamath; Jian She Wang; Li, LT; Ozlem Durmaz; Bettina Hansen; Henkjan Verkade; ...More
PUBLISHED: 2019, SOURCE: International Liver Congress / 54th Annual Meeting of the European-Association-for-the-Study-of-the-Liver (EASL) in JOURNAL OF HEPATOLOGY, VOLUME: 70
INDEXED IN: WOS
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TITLE: GENOTYPE-PHENOTYPE RELATIONSHIPS IN PATIENTS WITH RELATIVELY MILD MUTATIONS IN ABCB11: RESULTS FROM THE NAPPED CONSORTIUM.  Full Text
AUTHORS: Daan van Wessel; Richard J Thompson; Emmanuel M Gonzales; Irena Jankowska; Etienne M Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Patryk Lipinski; Piotr Czubkowski; Emmanuel Jacquemin; Anne Spraul; Nathalie Rock; Mohammad Shagrani; Dieter Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre A Kelly; Gabriela Nebbia; Henrik Arnell; Bjorn Fischler; Jan Hulscher; Daniele Serranti; Cigdem Arikan; Esra Polat; Dominique Debray; Florence Lacaille; Cristina Goncalves; Loreto Hierro; Gema M Munoz Bartolo; Yael Mozer Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsofi; Pier Luigi Calvo; Enke Grabhorn; Ekkehard Sturm; Wendy Van der Woerd; Binita M Kamath; Jian She Wang; Liting T Li; Ozlem Durmaz; Bettina E Hansen; Henkjan J Verkade; ...More
PUBLISHED: 2019, SOURCE: Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) / Liver Meeting in HEPATOLOGY, VOLUME: 70
INDEXED IN: WOS