Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants

Autor: Tsygankova, Polina, Bychkov, Igor, Minzhenkova, Marina, Pechatnikova, Natalia, Bessonova, Lyudmila, Buyanova, Galina, Naumchik, Irina, Beskorovainiy, Nikita, Tabakov, Vyacheslav, Itkis, Yulia, Shilova, Nadezhda, Zakharova, Ekaterina

Publikováno v: In Molecular Genetics and Metabolism Reports September 2022 32

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New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.

Autor: Baydakova, Galina V., Tsygankova, Polina G., Pechatnikova, Natalia L., Bazhanova, Olga A., Nazarenko, Yana D., Zakharova, Ekaterina Y.

Publikováno v: International Journal of Neonatal Screening (IJNS); Sep2023, Vol. 9 Issue 3, p48, 9p

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Genetic landscape of pediatric acute liver failure of indeterminate origin.

Autor: Lenz D; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 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 Munich, Munich Germany., Shimura M; Institute of Neurogenomics, Computational Health Centre, Helmholtz Munich, Munich Germany.; Department of Metabolism, Chiba Children's Hospital, Centre for Medical Genetics, Chiba, Japan., Bianzano A; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 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 Munich, Munich 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 Munich, Munich 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 Munich, Munich Germany., Adam R; Department of Paediatric Gastroenterology, Hepatology and Nutrition, University Children's Hospital, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany., Aldrian D; Paediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Baric I; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Baumann U; Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Division for Paediatric Gastroenterology and Hepatology, Hannover Medical School, Hannover, Germany., Bozbulut NE; Department of Paediatric Gastroenterology, Gazi University Faculty of Medicine, 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; Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Burnytė 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, Dublin, Ireland., Dalgiç B; Department of Paediatric Gastroenterology, Gazi University Faculty of Medicine, Ankara, Turkey., Das AM; Hannover Medical School, Clinic for Paediatric Kidney, Liver, and Metabolic Diseases, Hannover, Germany., Dezsőfi A; First Department of Paediatrics, Semmelweis University, Budapest, Hungary., Distelmaier F; Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Fichtner A; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Freisinger P; Department of Paediatrics, Hospital Reutlingen, Reutlingen, Germany., Garbade SF; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 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; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.; University Medical Centre Hamburg-Eppendorf, Institute of Human Genetics, Hamburg., Henning S; Department of Paediatric Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Berlin, Germany., Hoerning A; Department of Paediatrics, University Hospital Erlangen, Erlangen, Germany., Houwen R; Paediatric Gastroenterology, UMC Utrecht, Utrecht, The Netherlands., Hughes J; Children's Health Ireland, Temple Street Hospital, Dublin, Ireland., Iorio R; Department of Translational Medical Sciences, University of Naples Federico II, Naples, Italy., Iwanicka-Pronicka K; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Jankofsky M; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Junge N; Department of Peadiatric Kidney, Liver, and Metabolic Diseases, Division for Paediatric Gastroenterology and Hepatology, 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; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey., Kaspar S; Department of Paediatrics, University Hospital Erlangen, Erlangen, Germany., Kathemann S; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany., Kelly D; Birmingham Children's Hospital NHS Trust, Liver Unit, Birmingham, UK., Kirsaçlioğlu CT; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey., Knoppke B; University Hospital Regensburg, KUNO University Children's Hospital, Regensburg, Germany., Kohl M; Department of General Paediatrics, University Medical Centre Schleswig-Holstein, 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; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Konstantopoulou V; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Krylova T; Research Centre for Medical Genetics, Moscow, Russian Federation., Kuloğlu Z; Department of Paediatric Gastroenterology, Ankara University, School of Medicine, Ankara, Turkey., Kuster A; Department of Neurometabolism, University Hospital of Nantes, Nantes, France., Laass MW; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Lainka E; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany., Lurz E; Department of Paediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Mandel H; Department of Paediatrics, Rambam Medical Centre, Meyer Children's Hospital, 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, Pennsylvania, USA., McClean P; Children's Liver Unit, Leeds Children's Hospital, Leeds, UK., McLin V; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland., Mention K; Jeanne de Flandres Hospital, Reference Centre for Inherited Metabolic Diseases, Lille, France., Müller H; Department of Paediatrics, Division of Neonatology and Paediatric Intensive Care, 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 Munich, Munich Germany., Pechatnikova N; Healthcare Department Morozov Children's City Clinical Hospital, Moscow City, Moscow., Peters B; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Petković Ramadža D; Department of Paediatrics, University Hospital Centre Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Piekutowska-Abramczuk D; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Pilic D; Department of Paediatrics II, Paediatric Gastroenterology, Hepatology and Liver Transplantation, University Hospital Essen, Essen, Germany., Rajwal S; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland., Rock N; Department of Paediatrics, Gynecology, and Obstetrics, Division of Paediatric Subspecialities, Swiss Paediatric Liver Centre, Paediatric Gastroenterology, Hepatology and Nutrition Unit, University of Geneva, Geneva, Switzerland., Roetig A; Laboratory of Genetics of Mitochondrial Diseases, Imagine Institute, University Paris Cité, INSERM UMR, Paris, France., Santer R; Department of Paediatrics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany., Schenk W; Department of Paediatrics, University Hospital Augsburg, Augsburg, Germany., Semenova N; Research Centre for Medical Genetics, Moscow, Russian Federation., Sokollik C; Department of Paediatrics, Division of Paediatric Gastroenterology, Hepatology and Nutrition, 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, UK., 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, Pennsylvania, USA., 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; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Murayama K; Department of Metabolism, Chiba Children's Hospital, Centre for Medical Genetics, Chiba, Japan., Staufner C; Heidelberg University, Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 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 Munich, Munich Germany.

Publikováno v: Hepatology (Baltimore, Md.) [Hepatology] 2024 May 01; Vol. 79 (5), pp. 1075-1087. Date of Electronic Publication: 2023 Nov 16.