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Displaying 11 results.
    • Journal article
    Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
    Strautnieks, Sandra S Byrne, Jane A Pawlikowska, Ludmila Cebecauerová, Dita Rayner, Anne Dutton, Laura Meier, Yvonne Antoniou, Anthony Stieger, Bruno Arnell, Henrik Ozçay, Figen Al-Hussaini, Hussa F Bassas, Atif F Verkade, Henkjan J Fischler, Björn Németh, Antal Kotalová, Radana Shneider, Benjamin L Cielecka-Kuszyk, Joanna McClean, Patricia Whitington, Peter F Sokal, Etienne[UCL] Jirsa, Milan Wali, Sami H Jankowska, Irena Pawłowska, Joanna Mieli-Vergani, Giorgina Knisely, A S Bull, Laura N Thompson, Richard J (2008) Gastroenterology — Vol. 134, no. 4, p. 1203-14 (2008)
    • 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[UCL] 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 — Vol. 74, no. 2, p. 892-906 (2021)
    • Journal article
    Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
    Pawlikowska, Ludmila Strautnieks, Sandra Jankowska, Irena Czubkowski, Piotr Emerick, Karan Antoniou, Anthony Wanty, Catherine Fischler, Bjorn Jacquemin, Emmanuel Wali, Sami Blanchard, Samra Nielsen, Inge-Merete Bourke, Billy McQuaid, Shirley Lacaille, Florence Byrne, Jane A van Eerde, Albertien M Kolho, Kaija-Leena Klomp, Leo Houwen, Roderick Bacchetti, Peter Lobritto, Steven Hupertz, Vera McClean, Patricia Mieli-Vergani, Giorgina Shneider, Benjamin Nemeth, Antal Sokal, Etienne[UCL] Freimer, Nelson B Knisely, A S Rosenthal, Philip Whitington, Peter F Pawlowska, Joanna Thompson, Richard J Bull, Laura N (2010) Journal of hepatology — Vol. 53, no.1, p. 170-178 (2010)
    • Journal article
    Powikłania leczenia interferonem pegylowanym i rybawiryna u pacjentki z marskościa zółciowa watroby i nadkazeniem HCV.
    Pawłowska, Joanna Sokal, Etienne[UCL] Jankowska, Irena Teisseyre, Mikołaj Rokitka, Maria Socha, Jerzy (2005) Przegla̧d epidemiologiczny — Vol. 59, no. 2, p. 605-9 (2005)
    • Journal article
    Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies
    Bull, Laura N. Pawlikowska, Ludmila Strautnieks, Sandra Jankowska, Irena Czubkowski, Piotr Dodge, Jennifer L. Emerick, Karan Wanty, Catherine Wali, Sami Blanchard, Samra Lacaille, Florence Byrne, Jane A. van Eerde, Albertien M. Kolho, Kaija-Leena Houwen, Roderick Lobritto, Steven Hupertz, Vera McClean, Patricia Mieli-Vergani, Giorgina Sokal, Etienne[UCL] Rosenthal, Philip Whitington, Peter F. Pawlowska, Joanna Thompson, Richard J. (2018) Hepatology Communications — Vol. 2, no.5, p. 515-528 (2018)
    • 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)
    • 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
    Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study
    Vandriel, Shannon M. Li, Li‐Ting She, Huiyu Wang, Jian‐She Gilbert, Melissa A. Jankowska, Irena Czubkowski, Piotr Gliwicz‐Miedzińska, Dorota Gonzales, Emmanuel M. Jacquemin, Emmanuel Bouligand, Jérôme Spinner, Nancy B. Loomes, Kathleen M. Piccoli, David A. D'Antiga, Lorenzo Nicastro, Emanuele Sokal, Etienne[UCL] Demaret,Tanguy[UCL] Ebel, Noelle H. Feinstein, Jeffrey A. Fawaz, Rima Nastasio, Silvia Lacaille, Florence Debray, Dominique Arnell, Henrik Fischler, Björn Siew, Susan Stormon, Michael Karpen, Saul J. Romero, Rene Kim, Kyung Mo Baek, Woo Yim Hardikar, Winita Shankar, Sahana Roberts, Amin J. Evans, Helen M. Jensen, M. Kyle Kavan, Marianne Sundaram, Shikha S. Chaidez, Alexander Karthikeyan, Palaniswamy Sanchez, Maria Camila Cavalieri, Maria Lorena Verkade, Henkjan J. Lee, Way Seah Squires, James E. Hajinicolaou, Christina Lertudomphonwanit, Chatmanee Fischer, Ryan T. Larson‐Nath, Catherine Mozer‐Glassberg, Yael Arikan, Cigdem Lin, Henry C. Quintero Bernabeu, Jesus Alam, Seema Kelly, Deirdre Carvalho, Elisa Ferreira, Cristina Targa Indolfi, Giuseppe Quiros‐Tejeira, Ruben E. Bulut, Pinar Calvo, Pier Luigi Önal, Zerrin Valentino, Pamela L. Desai, Dev M. Eshun, John Rogalidou, Maria Dezsőfi, Antal Wiecek, Sabina Nebbia, Gabriella Borges Pinto, Raquel Wolters, Victorien M. Tamara, María Legarda Zizzo, Andréanne N. Garcia, Jennifer Schwarz, Kathleen Beretta, Marisa Sandahl, Thomas Damgaard Jimenez‐Rivera, Carolina Kerkar, Nanda Brecelj, Jernej Mujawar, Quais Rock, Nathalie Busoms, Cristina Molera Karnsakul, Wikrom Lurz, Eberhard Santos‐Silva, Ermelinda Blondet, Niviann Bujanda, Luis Shah, Uzma Thompson, Richard J. Hansen, Bettina E. Kamath, Binita M. (2023) Hepatology — Vol. 77, no. 2, p. 512-529 (2023)
    • Speech
    Genotype phenotype relationships in patients with relatively mild mutations in ABCB11: results from the napped consortium
    van Wesssel, Daan Thompson, Richard J. Gonzales, Emmanuel M. Jankowska, Irena Sokal, Etienne[UCL] (2019) The Liver Meeting AASLD (American Association of the Study of Liver Diseases) — Boston, USA
    • Journal article
    Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA
    Hansen, Bettina E. Vandriel, Shannon M. Vig, Pamela Garner, Will Mogul, Douglas B. Loomes, Kathleen M. Piccoli, David A. Rand, Elizabeth B. Jankowska, Irena Czubkowski, Piotr Gliwicz-Miedzińska, Dorota Gonzales, Emmanuel M. Jacquemin, Emmanuel Bouligand, Jérôme D’Antiga, Lorenzo Nicastro, Emanuele Arnell, Henrik Fischler, Björn Sokal, Etienne[UCL] Demaret, Tanguy[UCL] Siew, Susan Stormon, Michael Karpen, Saul J. Romero, Rene Ebel, Noelle H. Feinstein, Jeffrey A. Roberts, Amin J. Evans, Helen M. Sundaram, Shikha S. Chaidez, Alexander Hardikar, Winita Shankar, Sahana Fischer, Ryan T. Lacaille, Florence Debray, Dominique Lin, Henry C. Jensen, M. Kyle Jaramillo, Catalina Karthikeyan, Palaniswamy Indolfi, Giuseppe Verkade, Henkjan J. Larson-Nath, Catherine Quiros-Tejeira, Ruben E. Valentino, Pamela L. Rogalidou, Maria Dezsőfi, Antal Squires, James E. Schwarz, Kathleen Calvo, Pier Luigi Bernabeu, Jesus Quintero Zizzo, Andréanne N. Nebbia, Gabriella Bulut, Pinar Santos-Silva, Ermelinda Fawaz, Rima Nastasio, Silvia Karnsakul, Wikrom Tamara, María Legarda Busoms, Cristina Molera Kelly, Deirdre A. Sandahl, Thomas Damgaard Jimenez-Rivera, Carolina Banales, Jesus M. Mujawar, Quais Li, Li-Ting She, Huiyu Wang, Jian-She Kim, Kyung Mo Oh, Seak Hee Sanchez, Maria Camila Cavalieri, Maria Lorena Lee, Way Seah Hajinicolaou, Christina Lertudomphonwanit, Chatmanee Waisbourd-Zinman, Orith Arikan, Cigdem Alam, Seema Carvalho, Elisa Melere, Melina Eshun, John Önal, Zerrin Desai, Dev M. Wiecek, Sabina Pinto, Raquel Borges Wolters, Victorien M. Garcia, Jennifer Beretta, Marisa Kerkar, Nanda Brecelj, Jernej Rock, Nathalie Lurz, Eberhard Blondet, Niviann Shah, Uzma Thompson, Richard J. Kamath, Binita M. (2024) Hepatology — Vol. 79, no. 6, p. 1279-1292 (2024)
    • 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 [1-12] (2023)