Dominic Lenz, Lea D Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, Riccardo Berutti, Rüdiger Adam, Denise Aldrian, Ivo Baric, Ulrich Baumann, Neslihan Eksi Bozbulut, Melanie Brugger, Theresa Brunet, Philip Bufler, Birutė Burnytė, Pier Luigi Calvo, Ellen Crushell, Buket Dalgıç, Anibh M Das, Antal Dezsőfi, Felix Distelmaier, Alexander Fichtner, Peter Freisinger, Sven F Garbade, Harald Gaspar, Louise Goujon, Nedim Hadzic, Steffen Hartleif, Bianca Hegen, Maja Hempel, Stephan Henning, Andre Hoerning, Roderick Houwen, Joanne Hughes, Raffaele Iorio, Katarzyna Iwanicka-Pronicka, Martin Jankofsky, Norman Junge, Ino Kanavaki, Aydan Kansu, Sonja Kaspar, Simone Kathemann, Deidre Kelly, Ceyda Tuna Kırsaçlıoğlu, Birgit Knoppke, Martina Kohl, Heike Kölbel, Stefan Kölker, Vassiliki Konstantopoulou, Tatiana Krylova, Zarife Kuloğlu, Alice Kuster, Martin W Laass, Elke Lainka, Eberhard Lurz, Hanna Mandel, Katharina Mayerhanser, Johannes A Mayr, Patrick McKiernan, Patricia McLean, Valerie McLin, Karine Mention, Hanna Müller, Laurent Pasquier, Martin Pavlov, Natalia Pechatnikova, Bianca Peters, Danijela Petković Ramadža, Dorota Piekutowska-Abramczuk, Denisa Pilic, Sanjay Rajwal, Nathalie Rock, Agnès Roetig, René Santer, Wilfried Schenk, Natalia Semenova, Christiane Sokollik, Ekkehard Sturm, Robert W Taylor, Eva Tschiedel, Vaidotas Urbonas, Roser Urreizti, Jan Vermehren, Jerry Vockley, Georg-Friedrich Vogel, Matias Wagner, Wendy van der Woerd, Saskia B Wortmann, Ekaterina Zakharova, Georg Friedrich Hoffmann, Thomas Meitinger, Kei Murayama, Christian Staufner, Holger Prokisch
BACKGROUND AIMS: Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, main causes are viral infections (12-16%) and inherited metabolic diseases (14-28%). Yet, in up to 50% of cases the underlying etiology remains elusive, challenging clinical management, including liver transplantation. We systematically studied indeterminate PALF cases referred for genetic evaluation by whole-exome sequencing (WES), and analyzed phenotypic and biochemical markers, and the diagnostic yield of WES in this condition...
November 17, 2023: Hepatology: Official Journal of the American Association for the Study of Liver Diseases