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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
Forny, Patrick; Hörster, Friederike; Ballhausen, Diana; Chakrapani, Anupam; Chapman, Kimberly A; Dionisi-Vici, Carlo; Dixon, Marjorie; Grünert, Sarah C; Grunewald, Stephanie; Haliloglu, Goknur; Hochuli, Michel; Honzik, Tomas; Karall, Daniela; Martinelli, Diego; Molema, Femke; Sass, Jörn Oliver; Scholl-Bürgi, Sabine; Tal, Galit; Williams, Monique; Huemer, Martina; Baumgartner, Matthias R.
Afiliación
  • Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Hörster F; Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Ballhausen D; Paediatric Unit for Metabolic Diseases, Department of Woman-Mother-Child, University Hospital Lausanne, Lausanne, Switzerland.
  • Chakrapani A; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
  • Chapman KA; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA.
  • Dionisi-Vici C; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy.
  • Dixon M; Dietetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
  • Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK.
  • Haliloglu G; Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Hochuli M; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
  • Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Karall D; Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
  • Martinelli D; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy.
  • Molema F; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Sass JO; Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany.
  • Scholl-Bürgi S; Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
  • Tal G; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel.
  • Williams M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Baumgartner MR; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
J Inherit Metab Dis ; 44(3): 566-592, 2021 05.
Article en En | MEDLINE | ID: mdl-33595124
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acidemia Propiónica / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Suiza
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Acidemia Propiónica / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2021 Tipo del documento: Article País de afiliación: Suiza