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Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Baric, Ivo; Broué, Pierre; Bulut, Derya; Church, Joseph A; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Eksi; Feillet, François; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M; Santer, René; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S; Wiedemann, Arnaud; Wortmann, Saskia B; Diwan, Gaurav D; Russell, Robert B; Prokisch, Holger; Garbade, Sven F; Kölker, Stefan; Hoffmann, Georg F.
Afiliación
  • Staufner C; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Peters B; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.
  • Alameer S; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Baric I; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Broué P; Department of Pediatrics, King Khaled National Guard Hospital, Jeddah, Saudi Arabia.
  • Bulut D; Department of Pediatrics, University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia.
  • Church JA; Pediatric Gastroenterology, Hepatology and Nutrition unit, Reference Center for Inherited Metabolic Diseases, Children's Hospital, Toulouse University Hospital, Toulouse, France.
  • Crushell E; Cukurova University Medical Faculty, Department of Pediatric Metabolism, Adana, Turkey.
  • Dalgiç B; Department of Pediatrics, University of Southern California, Children's Hospital Los Angeles, Los Angeles, CA, USA.
  • Das AM; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Dick A; Gazi University Faculty of Medicine, Department of Pediatric Gastroenterology, Ankara, Turkey.
  • Dikow N; Clinic for Pediatric Kidney, Liver, and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Dionisi-Vici C; Department of Pediatrics, University Hospital Würzburg, Wuerzburg, Germany.
  • Distelmaier F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Bozbulut NE; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Feillet F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
  • Gonzales E; Gazi University Faculty of Medicine, Department of Pediatric Gastroenterology, Ankara, Turkey.
  • Hadzic N; Department of Pediatrics, INSERM 1256, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France.
  • Hauck F; Pediatric Hepatology and Pediatric Liver Transplantation Unit, Bicêtre Hospital, AP-HP Paris-Sud University, Le Kremlin-Bicêtre, France.
  • Hegarty R; Pediatric Liver, GI and Nutrition Centre and Mowatlabs, King's College Hospital, London, UK.
  • Hempel M; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
  • Herget T; Pediatric Liver, GI and Nutrition Centre and Mowatlabs, King's College Hospital, London, UK.
  • Klein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Konstantopoulou V; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Kopajtich R; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
  • Kuster A; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Laass MW; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.
  • Lainka E; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Larson-Nath C; Inborn Errors of Metabolism, Pediatric Intensive Care Unit, University Hospital of Nantes, Nantes, France.
  • Leibner A; Children's Hospital, Medical Faculty Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Lurz E; Children's Hospital, Department of Pediatric Gastroenterology, Hepatology, and Transplant Medicine, University Duisburg-Essen, Essen, Germany.
  • Mayr JA; Pediatric Gastroenterology, University of Minnesota Medical School, Minneapolis, MN, USA.
  • McKiernan P; Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Mention K; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Munich, Germany.
  • Moog U; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.
  • Mungan NO; University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
  • Riedhammer KM; Reference Center for Inherited Metabolic Diseases, Jeanne de Flandres Hospital, Lille, France.
  • Santer R; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
  • Palafoll IV; Cukurova University Medical Faculty, Department of Pediatric Metabolism, Adana, Turkey.
  • Vockley J; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.
  • Westphal DS; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Wiedemann A; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
  • Wortmann SB; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Diwan GD; Department of Clinical Genetics and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain.
  • Russell RB; University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
  • Prokisch H; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.
  • Garbade SF; Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
  • Kölker S; Department of Pediatrics, INSERM 1256, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France.
  • Hoffmann GF; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Munich, Germany.
Genet Med ; 22(3): 610-621, 2020 03.
Article en En | MEDLINE | ID: mdl-31761904
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Enfermedades Genéticas Congénitas / Proteínas de Neoplasias Tipo de estudio: Clinical_trials / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Enfermedades Genéticas Congénitas / Proteínas de Neoplasias Tipo de estudio: Clinical_trials / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Alemania