Genetic landscape of pediatric acute liver failure of indeterminate origin

Por: Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnyte B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsofi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioglu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloglu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McLean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petkovic Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C and Prokisch H

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Publicada: 1 may 2024 Ahead of Print: 1 nov 2023

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Filiaciones:
Lenz D:
 Division of Neuropaediatrics and Paediatric Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Schlieben LD:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

 Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany

Shimura M:
 Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany

 Chiba Children's Hospital, Centre for Medical Genetics and Department of Metabolism, Chiba, Japan

Bianzano A:
 Division of Neuropaediatrics and Paediatric Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Smirnov D:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

 Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany

Kopajtich R:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

 Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany

Berutti R:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

 Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany

Adam R:
 University Children's Hospital

 Paediatric Gastroenterology, Hepatology and Nutrition

 Medical Faculty Mannheim

 Heidelberg University

 Mannheim, Germany

Aldrian D:
 Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria

Baric I:
 University Hospital Centre Zagreb, Department of Paediatrics and University of Zagreb, School of Medicine, Zagreb, Croatia

Baumann U:
 Division for Paediatric Gastroenterology and Hepatology, Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany

Bozbulut NE:
 Gazi University Faculty of Medicine, Department of Paediatric Gastroenterology, Ankara, Turkey

Brugger M:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

Brunet T:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

Bufler P:
 Charité - Universitätsmedizin Berlin, Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Berlin, Germany

Burnyte B:
 Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania

Calvo PL:
 Regina Margherita Children's Hospital, Paediatic Gastroenterology Unit, Torino, Italy

Crushell E:
 National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple st, Dublin, Ireland

Dalgiç B:
 Gazi University Faculty of Medicine, Department of Paediatric Gastroenterology, Ankara, Turkey

Das AM:
 Hannover Medical School, Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover, Germany

Dezsofi A:
 First Department of Paediatrics, Semmelweis University, Budapest, Hungary

Distelmaier F:
 University Children's Hospital, Heinrich-Heine-University Düsseldorf, Department of General Paediatrics, Neonatology and Paediatric Cardiology, Düsseldorf, Germany

Fichtner A:
 Division of Neuropaediatrics and Paediatric Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Freisinger P:
 Hospital Reutlingen, Department of Paediatrics, Reutlingen, Germany

Garbade SF:
 Division of Neuropaediatrics and Paediatric Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Gaspar H:
 Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland

Goujon L:
 CLAD Ouest CHU Hôpital Sud, CRMR Déficiences intellectuelles, Service de Génétique Médicale, Rennes, France

Hadzic N:
 King's College Hospital, Paediatric Liver, GI & Nutrition Centre, London, United Kingdom

Hartleif S:
 Eberhard Karls University Tuebingen, Paediatric Gastroenterology and Hepatology, Tuebingen, Germany

Hegen B:
 University Medical Centre Hamburg-Eppendorf, Department of Paediatrics, Hamburg, Germany

Hempel M:
 University Hospital Heidelberg, Institute of Human Genetics, Heidelberg, Germany

 University Medical Centre Hamburg-Eppendorf, Institute of Human Genetics, Hamburg

Henning S:
 Charité - Universitätsmedizin Berlin, Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Berlin, Germany

Hoerning A:
 University Hospital Erlangen, Department of Paediatrics, Erlangen, Germany

Houwen R:
 Paediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands

Hughes J:
 Children's Health Ireland, Temple Street Hospital, Dublin, Ireland

Iorio R:
 University of Naples Federico II, Department of Translational Medical Sciences, Naples, Italy

Iwanicka-Pronicka K:
 Children's Memorial Health Institute, Department of Medical Genetics, Warsaw, Poland

Jankofsky M:
 University Medical Centre Hamburg-Eppendorf, Department of Paediatrics, Hamburg, Germany

Junge N:
 Division for Paediatric Gastroenterology and Hepatology, Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany

Kanavaki I:
 Department of Paediatric Gastroenterology, Hepatology and Nutrition, Third Department of Paediatrics, Attikon University General Hospital, National and Kapodistrian University of Athens, Athens, Greece

Kansu A:
 Ankara University, School of Medicine, Department of Paediatric Gastroenterology, Ankara, Turkey

Kaspar S:
 University Hospital Erlangen, Department of Paediatrics, Erlangen, Germany

Kathemann S:
 University Hospital Essen, Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, Essen, Germany

Kelly D:
 Birmingham Children's Hospital NHS Trust, Liver Unit, Birmingham, United Kingdom

Kirsaçlioglu CT:
 Ankara University, School of Medicine, Department of Paediatric Gastroenterology, Ankara, Turkey

Knoppke B:
 University Hospital Regensburg, KUNO University Children's Hospital, Regensburg, Germany

Kohl M:
 University Medical Centre Schleswig-Holstein, Department of General Paediatrics, Kiel, Germany

Kölbel H:
 Department of Paediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro and Behavioral Sciences, University Duisburg-Essen, Essen, Germany

Kölker S:
 Division of Neuropaediatrics and Paediatric Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Konstantopoulou V:
 Medical University of Vienna, Department of Paediatrics and Adolescent Medicine, Vienna, Austria

Krylova T:
 Research Centre for Medical Genetics, Moscow, Russian Federation

Kuloglu Z:
 Ankara University, School of Medicine, Department of Paediatric Gastroenterology, Ankara, Turkey

Kuster A:
 University Hospital of Nantes, Department of Neurometabolism, Nantes, France

Laass MW:
 Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

Lainka E:
 University Hospital Essen, Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, Essen, Germany

Lurz E:
 Department of Paediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany

Mandel H:
 Rambam Medical Centre, Meyer Children's Hospital, Department of Paediatrics, Metabolic Unit, Haifa, Israel

Mayerhanser K:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

Mayr JA:
 University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria

McKiernan P:
 University of Pittsburgh and Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, Pittsburgh, PA, United States

McLean P:
 Children's Liver Unit, Leeds Children's Hospital, Leeds, UK

McLin V:
 Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, Division of Paediatric Subspecialities, Department of Paediatrics, Gynecology, and Obstetrics, University of Geneva, Geneva, Switzerland

Mention K:
 Jeanne de Flandres Hospital, Reference Centre for Inherited Metabolic Diseases, Lille, France

Müller H:
 Division of Neonatology and Paediatric Intensive Care, Department of Paediatrics, University Hospital Marburg, Marburg, Germany

Pasquier L:
 CLAD Ouest CHU Hôpital Sud, CRMR Déficiences intellectuelles, Service de Génétique Médicale, Rennes, France

Pavlov M:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

 Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany

Pechatnikova N:
 Morozov Children's City Clinical Hospital of the Moscow City Healthcare Department, Moscow

Peters B:
 Division of Neuropaediatrics and Paediatric Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Petkovic Ramadža D:
 University Hospital Centre Zagreb, Department of Paediatrics and University of Zagreb, School of Medicine, Zagreb, Croatia

Piekutowska-Abramczuk D:
 Children's Memorial Health Institute, Department of Medical Genetics, Warsaw, Poland

Pilic D:
 University Hospital Essen, Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, Essen, Germany

Rajwal S:
 Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, Division of Paediatric Subspecialities, Department of Paediatrics, Gynecology, and Obstetrics, University of Geneva, Geneva, Switzerland

Rock N:
 Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, Division of Paediatric Subspecialities, Department of Paediatrics, Gynecology, and Obstetrics, University of Geneva, Geneva, Switzerland

Roetig A:
 University Paris Cité, Imagine Institute, Laboratory of Genetics of Mitochondrial Diseases, INSERM UMR 1163, Paris, France

Santer R:
 University Medical Centre Hamburg-Eppendorf, Department of Paediatrics, Hamburg, Germany

Schenk W:
 Department of Paediatrics, university hospital Augsburg, Augsburg, Germany

Semenova N:
 Research Centre for Medical Genetics, Moscow, Russian Federation

Sokollik C:
 Division of Paediatric Gastroenterology, Hepatology and Nutrition, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland

Sturm E:
 Eberhard Karls University Tuebingen, Paediatric Gastroenterology and Hepatology, Tuebingen, Germany

Taylor RW:
 Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom

Tschiedel E:
 Department of Paediatrics I, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

Urbonas V:
 Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania

Urreizti R:
 Clinical Biochemistry Department, Hospital Sant Joan de Déu, IRSJD, Esplugues de Llobregat, Barcelona, Spain and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)- Instituto de Salud Carlos III, Spain

Vermehren J:
 University Hospital Regensburg, KUNO University Children's Hospital, Regensburg, Germany

Vockley J:
 University of Pittsburgh and Children's Hospital of Pittsburgh of UPMC, Pittsburgh Liver Research Centre, Pittsburgh, PA, United States

Vogel GF:
 Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria

 Institute of Cell Biology, Medical University of Innsbruck, Innsbruck, Austria

Wagner M:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

van der Woerd W:
 Paediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands

Wortmann SB:
 University Children's Hospital, Paracelsus Medical University Salzburg, Salzburg, Austria

Zakharova E:
 Research Centre for Medical Genetics, Moscow, Russian Federation

Hoffmann GF:
 Division of Neuropaediatrics and Paediatric Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Meitinger T:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

Murayama K:
 Chiba Children's Hospital, Centre for Medical Genetics and Department of Metabolism, Chiba, Japan

Staufner C:
 Division of Neuropaediatrics and Paediatric Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany

Prokisch H:
 School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany

 Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, Neuherberg, Germany

Division of Neuropaediatrics and Paediatric Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum Munchen, Neuherberg, Germany.; Chiba Children's Hospital, Centre for Medical Genetics and Department of Metabolism, Chiba, Japan.; Univ