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Citrin deficiency mimicking mitochondrial depletion syndrome.
Grünert, S C; Schumann, A; Freisinger, P; Rosenbaum-Fabian, S; Schmidts, M; Mueller, A J; Beck-Wödl, S; Haack, T B; Schneider, H; Fuchs, H; Teufel, U; Gramer, G; Hannibal, L; Spiekerkoetter, U.
Afiliación
  • Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany. sarah.gruenert@uniklinik-freiburg.de.
  • Schumann A; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
  • Freisinger P; Department of Paediatrics, Klinikum Reutlingen, 72764, Reutlingen, Germany.
  • Rosenbaum-Fabian S; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
  • Schmidts M; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
  • Mueller AJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Beck-Wödl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Schneider H; Center for Rare Diseases, University of Tübingen, 72076, Tübingen, Germany.
  • Fuchs H; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
  • Teufel U; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
  • Gramer G; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Mathildenstraße 1, 79106, Freiburg, Germany.
  • Hannibal L; University Hospital Heidelberg, Centre for Paediatric and Adolescent Medicine, Division of Neuropaediatrics and Metabolic Medicine, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
  • Spiekerkoetter U; Department of General Paediatrics, Adolescent Medicine and Neonatology, Laboratory of Clinical Biochemistry and Metabolism, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
BMC Pediatr ; 20(1): 518, 2020 11 11.
Article en En | MEDLINE | ID: mdl-33176737
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Colestasis / Colestasis Intrahepática / Citrulinemia Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Colestasis / Colestasis Intrahepática / Citrulinemia Tipo de estudio: Diagnostic_studies Límite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2020 Tipo del documento: Article País de afiliación: Alemania