المؤلفون: Indelicato E; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Schlieben LD; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany., Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02115, USA., Boesch S; Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Skorvanek M; Department of Neurology, P. J. Safarik University, Kosice, Slovakia.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovakia., Necpal J; 2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia.; Department of Neurology, Zvolen Hospital, Zvolen, Slovakia., Jech R; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Kateřinská 30, 121 08, Prague, Czech Republic., Winkelmann J; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Prokisch H; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany., Zech M; Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany. michael.zech@mri.tum.de.; Institute of Neurogenomics, Helmholtz Munich, Deutsches Forschungszentrum Für Gesundheit Und Umwelt (GmbH), Ingolstädter Landstraße 1, 85764, Neuherberg, Germany. michael.zech@mri.tum.de.; Institute for Advanced Study, Technical University of Munich, Lichtenbergstrasse 2 a, 85748, Garching, Germany. michael.zech@mri.tum.de.

المصدر: Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 4685-4692. Date of Electronic Publication: 2024 May 22.

نوع المنشور: Letter

بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Mitochondrial Diseases*/genetics , Mitochondrial Diseases*/diagnosis , Dystonia*/genetics , Dystonia*/diagnosis, Humans ; Male ; Female ; Adult ; Movement Disorders/genetics ; Movement Disorders/diagnosis ; Movement Disorders/physiopathology ; Middle Aged ; Mutation ; Adolescent

المؤلفون: Blickhäuser B; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany., Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Neuhofer CM; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Floride E; Institute for Human Genetics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Nesbitt V; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Fratter C; NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK., Koch J; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands., Kauffmann B; Klinikum Bremen Mitte, Department of Pediatrics, Neuropediatrics, 28205 Bremen, Germany., Catarino C; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany., Schlieben LD; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Kopajtich R; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany., Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Sadun AA; Doheny Eye Institute, Pasadena, CA 91105, USA.; Department of Ophthalmology, David Geffen School of Medicine, UCLA, Los Angeles, CA 10833, USA., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE2 4HH, UK., Fang F; Department of Pediatric Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China., La Morgia C; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, 40127 Bologna, Italy., Paquay S; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium., Nassogne MC; Department of Neuropediatrics, University Hospital St Luc, UCLouvain, 1200 Bruxelles, Belgium., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Wortmann S; University Children's Hospital, Department of Neuropediatrics, Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, 6525 Nijmegen, The Netherlands., Poulton J; Nuffield Department of Women's and Reproductive Health University of Oxford, The Women's Centre, Oxford, OX3 9DU, UK., Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany., Prokisch H; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.

المصدر: Brain : a journal of neurology [Brain] 2024 Jun 03; Vol. 147 (6), pp. 1967-1974.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Leigh Disease*/genetics , Optic Atrophy, Hereditary, Leber*/genetics, Humans ; Male ; Female ; Adult ; DNA, Mitochondrial/genetics ; Electron Transport Complex I/genetics ; Child ; Adolescent ; NADH Dehydrogenase/genetics ; Mutation ; Young Adult ; Exome Sequencing ; Child, Preschool

المؤلفون: Manzoni E; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy., Carli S; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy., Gaignard P; Department of Biochemistry, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94275, France., Schlieben LD; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333  Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany., Hirano M; H. Houston Merritt Neuromuscular Research Center, Department of Neurology, Columbia University Irving Medical Center, New York, NY 10033, USA., Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy., Gonzales E; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Bicêtre Hospital, Reference Center for Mitochondrial Disease, University of Paris-Saclay, Assistance Publique-Hôpitaux de Paris, Paris 94270, France., Shimura M; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan., Murayama K; Center for Medical Genetics, Department of Metabolism, Chiba Children's Hospital, Chiba 260-0842, Japan.; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan., Okazaki Y; Diagnostics and Therapeutic of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo 113-8421, Japan., Barić I; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Petkovic Ramadza D; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb, School of Medicine, Zagreb 10000, Croatia., Karall D; Clinic for Pediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Mayr J; University Children's Hospital, Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy., La Morgia C; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy., Primiano G; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy., Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg 20246, Germany., Servidei S; Dipartimento di Neuroscienze, Organi di Senso e Torace -Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome 00136, Italy.; Dipartimento Di Neuroscienze, Università Cattolica del Sacro Cuore, Rome 00168, Italy., Bris C; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France., Cano A; Centre de référence des maladies héréditaires du métabolisme, CHU la Timone Enfants, Marseille 13005, France., Furlan F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy., Gasperini S; Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy., Laborde N; Unité de Gastroentérologie, Hépatologie, Nutrition et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, CHU de Toulouse, Toulouse 31300, France., Lamperti C; Division of Medical Genetics and Neurogenetics, Fondazione IRCCS Neurological Institute 'C. Besta', Milan 20133, Italy., Lenz D; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy., Montano V; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa & AOUP, Pisa 56126, Italy., Menni F; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Regional Clinical Center for Expanded Newborn Screening, Milan 20122, Italy., Musumeci O; Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina 98125, Italy., Nesbitt V; Department of Paediatrics, Medical Sciences Division, Oxford University, Oxford OX3 9DU, UK., Procopio E; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Rouzier C; Centre de référence des Maladies Mitochondriales, Service de Génétique Médicale, CHU de Nice, Université Côte d'Azur, CNRS, INSERM, IRCAN, Nice 06000, France., Staufner C; Division of Neuropaediatrics and Paediatric Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Taanman JW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK., Tal G; Metabolic Clinic, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel., Ticci C; Metabolic Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy., Cordelli DM; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy., Carelli V; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna 40123, Italy.; IRCCS Istituto di Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna 40124, Italy., Procaccio V; University Angers, Angers Hospital, INSERM, CNRS, MITOVASC, SFR ICAT, Angers F-49000, France., Prokisch H; School of Medicine, Institute of Human Genetics, Technical University of Munich, Munich, 80333  Germany.; Institute of Neurogenomics, Computational Health Center, Helmholtz Zentrum München, Neuherberg 80333, Germany., Garone C; Department of Medical and Surgical Sciences, Alma Mater Studiorum University of Bologna, Bologna 40138, Italy.; IRCCS Istituto delle Scienze Neurologiche, UO Neuropsichiatria dell'età Pediatrica di Bologna, Bologna 40124, Italy.

المصدر: Brain communications [Brain Commun] 2024 May 06; Vol. 6 (3), pp. fcae160. Date of Electronic Publication: 2024 May 06 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

المؤلفون: Schlieben LD; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany., Carta MG; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany., Moskalev EA; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany., Stöhr R; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany., Metzler M; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany; Department of Pediatrics, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Besendörfer M; Department of Pediatric Surgery, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Meidenbauer N; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany; Department of Internal Medicine 5-Hematology and Oncology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Semrau S; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany; Department of Radiation Oncology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Janka R; Department of Radiology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Grützmann R; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany; Department of Pediatric Surgery, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Department of Surgery, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Wiemann S; Division of Molecular Genome Analysis, German Cancer Research Center, Heidelberg, Germany., Hartmann A; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany., Agaimy A; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany., Haller F; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany., Ferrazzi F; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany; Bavarian Cancer Research Center, Erlangen, Germany; Department of Nephropathology, Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany. Electronic address: fulvia.ferrazzi@uk-erlangen.de.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 May; Vol. 26 (5), pp. 387-398. Date of Electronic Publication: 2024 Feb 21.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Sarcoma, Small Cell*/diagnosis , Sarcoma, Small Cell*/genetics , Sarcoma, Small Cell*/pathology , Sarcoma*/genetics , Soft Tissue Neoplasms*/genetics, Humans ; Retrospective Studies ; Transcription Factors/genetics ; Sequence Analysis, RNA ; Oncogene Proteins, Fusion/genetics ; Biomarkers, Tumor/genetics ; Biomarkers, Tumor/analysis

المؤلفون: 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.

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

نوع المنشور: Observational Study; Multicenter Study; Journal Article

بيانات الدورية: Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 8302946 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-3350 (Electronic) Linking ISSN: 02709139 NLM ISO Abbreviation: Hepatology Subsets: MEDLINE

مواضيع طبية MeSH: Liver Failure, Acute*/diagnosis , Liver Transplantation*/adverse effects, Child ; Humans ; Neoplasm Recurrence, Local ; Biomarkers ; Europe

المؤلفون: Hammann N; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Lenz D; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Baric I; Department of Paediatrics, University Hospital Center Zagreb, University of Zagreb, School of Medicine, Zagreb, Croatia., Crushell E; National Centre for Inherited Metabolic Disorders, Childrens Health Ireland, Temple Street, Dublin 1, Ireland., Vici CD; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy., Distelmaier F; Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich-Heine-University, Düsseldorf, Germany., Feillet F; Department of Paediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France., Freisinger P; Children's Hospital Reutlingen, Germany., Hempel M; Institute of Human Genetics, Heidelberg University Hospital, Heidelberg, Germany., Khoreva AL; Dmitry Rogachev National Research Center for Pediatric Hematology, Oncology, Immunology Moscow, Russia., Laass MW; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Lacassie Y; Department of Pediatrics, Division of Genetics, LSU Health Sciences Center and Children's Hospital, New Orleans, Louisiana, USA., Lainka E; Pediatrics II, Department for Pediatric Nephrology, Gastroenterology, Endocrinology and Transplant Medicine, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Larson-Nath C; Pediatric Gastroenterology, University of Minnesota Medical School, Minneapolis, MN, USA., Li Z; Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China., Lipiński P; Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland., Lurz E; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany., Mégarbané A; Department of Human Genetics Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon; Institut Jérôme Lejeune, Paris, France., Nobre S; Pediatric Hepatology and Liver Transplantation Unit, Pediatric Department, Coimbra Hospital and Universitary Centre, Coimbra, Portugal., Olivieri G; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy., Peters B; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Prontera P; Medical Genetics Unit, Maternal-Infantile Department, Hospital and University of Perugia, Perugia, Italy., Schlieben LD; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Seroogy CM; Division of Allergy, Immunology and Rheumatology, Department of Pediatrics, University of Wisconsin-Madison, USA., Sobacchi C; Humanitas Research Hospital IRCCS, Rozzano, Italy; Institute for Genetic and Biomedical Research-National Research Council, Milan Unit, Milan, Italy., Suzuki S; Department of Pediatrics, Asahikawa Medical University, Asahikawa, Japan., Tran C; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Vockley J; University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Wang JS; Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China., Wagner M; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Prokisch H; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany; Department Computational Health, Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany., Garbade SF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Kölker S; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany., Staufner C; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Christian.Staufner@med.uni-heidelberg.de.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Mar; Vol. 141 (3), pp. 108118. Date of Electronic Publication: 2024 Jan 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Pelger-Huet Anomaly*/complications , Pelger-Huet Anomaly*/genetics , Pelger-Huet Anomaly*/pathology , Liver Failure, Acute*/genetics , Neuroblastoma*/complications, Humans ; Phenotype ; Mutation, Missense

المؤلفون: Kirchberg I; Department of Pediatric Intensive Care, Children's Hospital, University of Duisburg-Essen, Essen, Germany., Lainka E; Department of Pediatric Gastroenterology, Hepatology, and Transplant Medicine, Children's Hospital, University Duisburg-Essen, Essen, Germany., Gangfuß A; Department of Paediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioural Sciences, University Duisburg-Essen, Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, Essen, Germany., Baertling F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Dusseldorf, 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 Muenchen, Neuherberg, Germany., Lenz D; Division of Pediatric Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg University, Medical Faculty, University Hospital Heidelberg, Heidelberg, Germany., Tschiedel E; Department of Pediatric Intensive Care, Children's Hospital, University of Duisburg-Essen, Essen, Germany.

المصدر: Frontiers in pediatrics [Front Pediatr] 2024 Feb 20; Vol. 12, pp. 1278047. Date of Electronic Publication: 2024 Feb 20 (Print Publication: 2024).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE

المؤلفون: Peters B; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Dattner T; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, 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., Sun T; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Staufner C; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany., Lenz D; Medical Faculty Heidelberg, Center for Paediatric and Adolescent Medicine, Department I, Division of Paediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

المصدر: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jan 27. Date of Electronic Publication: 2024 Jan 27.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

عنوان ترانسليتريتد: Tagungsbericht SSIEM Jahrestagung vom 29.08.2023 bis 01.09.2023 in Jerusalem: „Where East Meets West“.

المؤلفون: Schlieben LD; Technische Universität München Institut für Humangenetik, Klinikum rechts der Isar München Deutschland.

المصدر: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V [Med Genet] 2023 Dec 05; Vol. 35 (4), pp. 331-332. Date of Electronic Publication: 2023 Dec 05 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: De Gruyter Country of Publication: Germany NLM ID: 9440651 Publication Model: eCollection Cited Medium: Internet ISSN: 1863-5490 (Electronic) Linking ISSN: 09365931 NLM ISO Abbreviation: Med Genet Subsets: PubMed not MEDLINE

المؤلفون: 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, Bakırkoy 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, Orsay, Paris, France., 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, İzmir 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, Newcastle upon Tyne, United Kingdom., 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., Sharrard M; Sheffield Children's NHS Foundation Trust, Sheffield, United Kingdom., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Staufner C; Division of Neuropaediatrics and Metabolic Medicine, Center for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Storey I; University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom., Stormon M; Department of Gastroenterology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Taylor RW; 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, Newcastle upon Tyne, United Kingdom., Thorburn DR; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia., Teles EL; Inherited Metabolic Diseases Reference Centre, São João Hospital University Centre, EPE, Porto, Portugal., Wang JS; The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China., Weghuber D; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria., Wortmann S; University Children's Hospital, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jun; Vol. 25 (6), pp. 100314. Date of Electronic Publication: 2022 Oct 29.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Liver Failure*/drug therapy , Liver Failure*/genetics , Liver Failure, Acute*/drug therapy , Liver Failure, Acute*/genetics, Adolescent ; Child ; Child, Preschool ; Humans ; Infant ; Young Adult ; Acetylcysteine/therapeutic use ; Mitochondrial Proteins/genetics ; Mutation ; Retrospective Studies ; tRNA Methyltransferases/genetics