1
TÍTULO: Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
AUTORES: 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.; ...Mais
PUBLICAÇÃO: 2023, FONTE: JHEP REPORTS, VOLUME: 5, NÚMERO: 2
INDEXADO EM: Scopus WOS
2
TÍTULO: Genotype correlates with the natural history of severe bile salt export pump deficiency
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2020, FONTE: JOURNAL OF HEPATOLOGY, VOLUME: 73, NÚMERO: 1
INDEXADO EM: Scopus WOS
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TÍTULO: NATIVE LIVER SURVIVAL IN PATIENTS WITH FIC1 DEFICIENCY: IMPACT OF GENOTYPE, SERUM BILE ACID CONCENTRATIONS AND SURGICAL BILIARY DIVERSION.  Full Text
AUTORES: Daan van Wessel; Richard J Thompson; Emmanuel M Gonzales; Irena Jankowska; Benjamin L Shneider; 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 Kelly; Gabriela Nebbia; Henrik Arnell; Bjorn Fischler; Jan 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; Steffen Hartleif; Wendy Van der Woerd; Jian She Wang; Liting T Li; Ozlem Durmaz; Nanda Kerkar; Marianne Horby Jorgensen; Ryan T Fischer; Carolina Jimenez Rivera; Seema Alam; Mara Cananzi; Noemie Laverdure; Cristina Targa Ferreira; Felipe Ordonez Ferrero; Heng Wang; Valerie Sency; Kyung Mo Kim; Huey Ling Chen; Elisa Carvalho; Alexandre Fabre; Jesus Quintero Bernabeu; Estella M Alonso; Ronald J Sokol; Frederick J Suchy; Kathleen M Loomes; Patrick James McKiernan; Philip Rosenthal; Yumirle Padron Turmelle; Girish S Rao; Simon P Horslen; Binita M Kamath; Maria Rogalidou; Wikrom Karnsakul; Bettina E Hansen; Henkjan J Verkade; ...Mais
PUBLICAÇÃO: 2020, FONTE: Liver Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) in HEPATOLOGY, VOLUME: 72
INDEXADO EM: WOS
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TÍTULO: THE PRESENCE OF A TRUNCATING MUTATION IN ABCB11 ABROGATES THE BENEFICIAL EFFECT OF A RESIDUAL FUNCTION MUTATION ON THE COURSE OF SEVERE BILE SALT EXPORT PUMP DEFICIENCY  Full Text
AUTORES: Antonia Felzen; Daan van Wessel; Richard J Thompson; Emmanuel M Gonzales; Irena Jankowska; Benjamin L Shneider; 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 Kelly; Gabriella Nebbia; Henrik Arnell; Bjorn Fischler; Jan 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; Steffen Hartleif; Wendy Van der Woerd; Binita M Kamath; Jian She Wang; Liting T Li; Ozlem Durmaz; Nanda Kerkar; Marianne Horby Jorgensen; Ryan T Fischer; Carolina Jimenez Rivera; Seema Alam; Mara Cananzi; Mathias Ruiz; Cristina Targa Ferreira; Felipe Ordonez Ferrero; Heng Wang; Valerie Sency; Kyung Mo Kim; Huey Ling Chen; Elisa Carvalho; Alexandre Fabre; Jesus Quintero Bernabeu; Estella M Alonso; Ronald J Sokol; Frederick J Suchy; Kathleen M Loomes; Patrick James McKiernan; Philip Rosenthal; Yumirle Turmelle; Simon P Horslen; Kathleen B Schwarz; Jorge A Bezerra; Kasper S Wang; Bettina E Hansen; Henkjan J Verkade; ...Mais
PUBLICAÇÃO: 2020, FONTE: Liver Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) in HEPATOLOGY, VOLUME: 72
INDEXADO EM: WOS
5
TÍTULO: Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2019, FONTE: International Liver Congress / 54th Annual Meeting of the European-Association-for-the-Study-of-the-Liver (EASL) in JOURNAL OF HEPATOLOGY, VOLUME: 70
INDEXADO EM: WOS
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TÍTULO: GENOTYPE-PHENOTYPE RELATIONSHIPS IN PATIENTS WITH RELATIVELY MILD MUTATIONS IN ABCB11: RESULTS FROM THE NAPPED CONSORTIUM.  Full Text
AUTORES: 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; ...Mais
PUBLICAÇÃO: 2019, FONTE: Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD) / Liver Meeting in HEPATOLOGY, VOLUME: 70
INDEXADO EM: WOS