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Displaying 12 results.
    • Speech
    Predicting development of hepatocellular carcinoma among patients with progressive familial intrahepatic cholestasis type 2
    Varma, Sharat[UCL] Rapahel, Fredrick Davit-Spraul, Anne Mussini, Charlotte Stéphenne, Xavier[UCL] Jacquemin, Emmanuel Gonzales, Emmanuel Sokal, Etienne[UCL] (2017) ESPGHAN Monothematic conference: PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS — Budapest, Hungary
    • Speech
    PS-193-Phase 2 open-label study with a placebo-controlled drug withdrawal period of the apical sodium-dependent bile acid transporter inhibitor maralixibat in children with Alagille Syndrome: 48-week interim efficacy analysis
    Gonzales, Emmanuel Sturm, Ekkehard Stormon, Michael Sokal, Etienne[UCL] Hardikar, Winita Lacaille, Florence Gliwicz, Dorota Hierro, Loreto Jaecklin, Thomas Gu, Joan Desai, Nirav K. Dorenbaum, Alejandro Kennedy, Ciara Baker, Alastair Jacquemin, Emmanuel (2019) The International Liver Congress (EASL) — Vienne, Autriche
    • Speech
    PS-195-Predicting long-term outcome after surgical biliary diversion in Bsep-deficiency patients: Results from the NAPPED consortium
    Wessel, Daan van Thompson, Richard Grammatikopoulos, Tassos Kadaristiana, Agustina Jankowska, Irena Lipiński, Patryk Czubkowski, Piotr Gonzales, Emmanuel Jacquemin, Emmanuel Spraul, Anne Sokal, Etienne[UCL] Shagrani, Mohammad Ali Broering, Dieter Clemens Algoufi, Talal Mazhar, Nejat Nicastro, Emanuele Kelly, Deirdre Nebbia, Gabriella Arnell, Henrik Fischler, Björn Hulscher, JBF Serranti, Daniele Arıkan, Cigdem Polat, Esra Debray, Dominique Lacaille, Florence Gonçalves, Cristina Hierro, Loreto Bartolo, Gema Muñoz Mozer-Glassberg, Yael Azaz, Amer Brecelj, Jernej Dezsőfi, Antal Calvo, Pier Luigi Grabhorn, Enke Sturm, Ekkehard Woerd, Wendy van der Kamath, Binita M. Wang, Jian-She Liting, Li Durmaz, Ozlem Hansen, Bettina Verkade, Henkjan (2019) The International Liver Congress (EASL) — Vienne, Autriche
    • Journal article
    Loss-of-Function Mutations inUNC45ACause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
    Esteve, Clothilde Francescatto, Ludmila Tan, Perciliz L. Bourchany, Aurélie De Leusse, Cécile Marinier, Evelyne Blanchard, Arnaud Bourgeois, Patrice Brochier-Armanet, Céline Bruel, Ange-Line Delarue, Arnauld Duffourd, Yannis Ecochard-Dugelay, Emmanuelle Hery, Géraldine Huet, Frédéric Gauchez, Philippe Gonzales, Emmanuel Guettier-Bouttier, Catherine Komuta, Mina[UCL] Lacoste, Caroline Maudinas, Raphaelle Mazodier, Karin Rimet, Yves Rivière, Jean-Baptiste Roquelaure, Bertrand Sigaudy, Sabine Stéphenne, Xavier[UCL] Thauvin-Robinet, Christel Thevenon, Julien Sarles, Jacques Levy, Nicolas Badens, Catherine Goulet, Olivier Hugot, Jean-Pierre Katsanis, Nicholas Faivre, Laurence Fabre, Alexandre (2018) American Journal of Human Genetics — Vol. 102, no. 3, p. 364-374 (2018)
    • Journal article
    Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency
    van Wessel, Daan B.E. Thompson, Richard J. Gonzales, Emmanuel Jankowska, Irena Shneider, Benjamin L. Sokal, Etienne[UCL] 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 van der 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 Ferreira, Cristina Targa Ordonez, Felipe Wang, Heng Sency, Valerie Kim, Kyung Mo 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. (2021) Hepatology — (2021)
    • Journal article
    Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency
    Paganelli, Massimiliano[UCL] Stephenne, Xavier[UCL] Gilis, Allison[UCL] Jacquemin, Emmanuel Henrion Caude, Alexandra Girard, Muriel Gonzales, Emmanuel Revencu, Nicole[UCL] Reding, Raymond[UCL] Wanty, Catherine[UCL] Smets, Françoise[UCL] Sokal, Etienne[UCL] (2011) Journal of Pediatric Gastroenterology and Nutrition — Vol. 53, no. 3, p. 350-354 (2011)
    • Journal article
    Genotype correlates with the natural history of severe bile salt export pump deficiency
    van Wessel, Daan B.E. Thompson, Richard J. Gonzales, Emmanuel Jankowska, Irena Sokal, Etienne[UCL] Grammatikopoulos, Tassos Kadaristiana, Agustina Jacquemin, Emmanuel Spraul, Anne Lipiński, Patryk Czubkowski, Piotr ROCK, Nathalie[UCL] Shagrani, Mohammad Broering, Dieter Algoufi, Talal Mazhar, Nejat Nicastro, Emanuele Kelly, Deirdre Nebbia, Gabriella Arnell, Henrik Fischler, Bjo¨rn 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 Sturm, Ekkehard van der Woerd, Wendy J. Kamath, Binita M. Wang, Jian-She Li, Liting Durmaz, Özlem Onal, Zerrin Bunt, Ton MG. Hansen, Bettina Verkade, Henkjan J. (2020) Journal of Hepatology — Vol. 73, no. 1, p. 84-93 (2020)
    • Journal article
    Acute Hepatitis of Unknown Etiology Among Young Children: Research Agenda by the ESPGHAN Hepatology Committee
    Indolfi, Giuseppe Czubkowski, Piotr Fitzpatrick, Emer Gonzales, Emmanuel Gupte, Girish Mancell, Sara Mozer-Glassberg, Yael Nicastro, Emanuele Norman, Junge Stéphenne, Xavier[UCL] Zellos, Aglaia Samyn, Marianne (2022) Journal of Pediatric Gastroenterology & Nutrition — Vol. 75, no.4, p. 543-548 (2022)
    • Journal article
    Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency
    Felzen, Antonia van Wessel, Daan B.E. Gonzales, Emmanuel Thompson, Richard J. Jankowska, Irena Shneider, Benjamin L. Sokal, Etienne[UCL] 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. (2023) JHEP Reports — Vol. 5, no.2, p. 100626 (2023)
    • Journal article
    Acute Hepatitis of Unknown Etiology Among Young Children: Research Agenda by the ESPGHAN Hepatology Committee
    Indolfi, Giuseppe Czubkowski, Piotr Fitzpatrick, Emer Gonzales, Emmanuel Gupte, Girish Mancell, Sara Mozer-Glassberg, Yael Nicastro, Emanuele Norman, Junge Stéphenne, Xavier[UCL] Zellos, Aglaia Samyn, Marianne (2022) Journal of Pediatric Gastroenterology & Nutrition — Vol. 75, no.4, p. 543-548 (2022)
    • Journal article
    Long-term Outcome of Asymptomatic Patients With Graft Fibrosis in Protocol Biopsies After Pediatric Liver Transplantation
    Hartleif, Steffen Hodson, James Lloyd, Carla Cousin, Vladimir L. Czubkowski, Piotr D’Antiga, Lorenzo Debray, Dominique Demetris, Anthony Di Giorgio, Angelo Evans, Helen M. Fischler, Björn Gonzales, Emmanuel Gouw, Annette S.H. Hübscher, Stefan G. Jacquemin, Emmanuel Lacaille, Florence Malenicka, Silvia McLin, Valerie A. Markiewicz-Kijewska, Małgorzata Mazariegos, George V. Rajanayagam, Jeremy K. Scheenstra, René Singer, Stephan Smets, Françoise[UCL] Sokal, Etienne[UCL] Squires, James E. Sturm, Ekkehard Verkade, Henkjan Kelly, Deirdre A. (2023) Transplantation — Vol. Publish Ahead of Print (2023)
    • Journal article
    Efficacy and safety of maralixibat treatment in patients with Alagille syndrome and cholestatic pruritus (ICONIC): a randomised phase 2 study
    Gonzales, Emmanuel Hardikar, Winita Stormon, Michael Baker, Alastair Hierro, Loreto Gliwicz, Dorota Lacaille, Florence Lachaux, Alain Sturm, Ekkehard Setchell, Kenneth D R Kennedy, Ciara Dorenbaum, Alejandro Steinmetz, Jana Desai, Nirav K Wardle, Andrew J Garner, Will Vig, Pamela Jaecklin, Thomas Sokal, Etienne[UCL] Jacquemin, Emmanuel (2021) The Lancet — Vol. 398, no. 10311, p. 1581-1592 (2021)