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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel, Georg F; Mozer-Glassberg, Yael; Landau, Yuval E; Schlieben, Lea D; Prokisch, Holger; Feichtinger, René G; Mayr, Johannes A; Brennenstuhl, Heiko; Schröter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S; Baker, Joshua J; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Müller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rötig, Agnès; Santer, René; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad.
Afiliação
  • Vogel GF; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria; Institute of Cell Biology, Biocenter, Medical University of Innsbruck, Innsbruck, Austria. Electronic address: georg.vogel@i-med.ac.at.
  • Mozer-Glassberg Y; Institute for Gastroenterology, Nutrition and Liver diseases, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.
  • Landau YE; Metabolism Service, Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Schlieben LD; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.
  • Prokisch H; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg, Germany.
  • Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.
  • Mayr JA; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.
  • Brennenstuhl H; Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Schröter J; Division of Paediatric Epileptology, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Pechlaner A; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
  • Baker JJ; Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
  • Barcia G; Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France; Institut Imagine, INSERM UMR 1163, Paris, France.
  • Baric I; Department of Pediatrics, School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia.
  • Braverman N; Division of Medical Genetics, Department of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.
  • Burnyte B; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
  • Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.
  • Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Coman D; Faculty of Medicine, Queensland Children's Hospital, University of Queensland, Herston, Brisbane, Queensland, Australia.
  • Das AM; Department of Paediatrics, Paediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany.
  • Darin N; Department of Pediatrics, Institute of Clinical Sciences, University of Gothenburg, Gothenburg, Sweden.
  • Della Marina A; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- und Behavioral Sciences, University Duisburg-Essen, Essen, Germany.
  • Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, Heinrich-Heine-University Dusseldorf, Dusseldorf, Germany.
  • Eklund EA; Section for Pediatrics, Department of Clinical Sciences, Lund University, Lund, Sweden.
  • Ersoy M; Department of Pediatrics, Division of Pediatric Metabolism, University of Health Sciences, Bakirkoy Dr. Sadi Konuk Training and Research, Istanbul, Turkey.
  • Fang W; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
  • Gaignard P; Department of Biochemistry, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, Paris, France.
  • Ganetzky RD; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Reference Center for Mitochondrial Disease, FILNEMUS, Bicêtre University Hospital, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, Paris, France; Inserm U1193, Hepatinov, University Paris-Saclay, Or
  • Howard C; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland.
  • Hughes J; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland.
  • Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Kose M; Division of Inborn Errors of Metabolism, Department of Pediatrics, Izmir Katip Çelebi University, Izmir, Turkey; Division of Genetics, Department of Pediatrics, Ege University, Izmir, Turkey.
  • Kerr M; Discovery DNA, Metabolics and Genetics in Canada (M.A.G.I.C.) Clinic Ltd, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Khan A; Discovery DNA, Metabolics and Genetics in Canada (M.A.G.I.C.) Clinic Ltd, Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Lenz D; Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newc
  • Margolis MG; Institute of Endocrinology and Diabetes, National Center of Childhood Diabetes Schneider Children's Medical Center of Israel, Petah Tiqwa, Israel.
  • Morrison K; Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
  • Müller T; Department of Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba, Japan.
  • Nicastro E; Pediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy.
  • Pennisi A; Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France; Institut Imagine, INSERM UMR 1163, Paris, France.
  • Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Rötig A; Institut Imagine, INSERM UMR 1163, Paris, France.
  • Santer R; Department of Pediatrics, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
  • Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Shatin, Hong Kong SAR.
  • Schiff M; Department of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Necker Hospital, Université Paris Cité, Paris, France; Institut Imagine, INSERM UMR 1163, Paris, France; Reference Center of Inherited Metabolic Disorders, Necker Hospital, Université Paris Cité, Paris, France
  • Shagrani M; Department of Liver & Small Bowel Health Centre King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Genet Med ; 25(6): 100314, 2023 06.
Article em En | MEDLINE | ID: mdl-36305855
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Falência Hepática Aguda / Falência Hepática Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Falência Hepática Aguda / Falência Hepática Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Humans / Infant Idioma: En Ano de publicação: 2023 Tipo de documento: Article