Your browser doesn't support javascript.
loading
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Burgard, Peter; Chapman, Kimberly A; Dobbelaere, Dries; Heringer-Seifert, Jana; Fleissner, Sandra; Grohmann-Held, Karina; Hahn, Gabriele; Harting, Inga; Hoffmann, Georg F; Jochum, Frank; Karall, Daniela; Konstantopoulous, Vassiliki; Krawinkel, Michael B; Lindner, Martin; Märtner, E M Charlotte; Nuoffer, Jean-Marc; Okun, Jürgen G; Plecko, Barbara; Posset, Roland; Sahm, Katja; Scholl-Bürgi, Sabine; Thimm, Eva; Walter, Magdalena; Williams, Monique; Vom Dahl, Stephan; Ziagaki, Athanasia; Zschocke, Johannes; Kölker, Stefan.
Afiliação
  • Boy N; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Mühlhausen C; Department of Paediatrics and Adolescent Medicine, University Medical Centre, Göttingen, Germany.
  • Maier EM; Dr von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany.
  • Ballhausen D; Paediatric Metabolic Unit, Paediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Switzerland.
  • Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Centre for Paediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany.
  • Burgard P; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Chapman KA; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA.
  • Dobbelaere D; Department of Paediatric Metabolism, Reference Centre of Inherited Metabolic Disorders, Jeanne de Flandre Hospital, Lille, France.
  • Heringer-Seifert J; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Fleissner S; Dr von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany.
  • Grohmann-Held K; Centre for Child and Adolescent Medicine, University Hospital Greifswald, Greifswald, Germany.
  • Hahn G; Department of Radiological Diagnostics, UMC, University of Dresden, Dresden, Germany.
  • Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.
  • Hoffmann GF; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Jochum F; Evangelisches Waldkrankenhaus Spandau, Berlin, Germany.
  • Karall D; Clinic for Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria.
  • Konstantopoulous V; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Krawinkel MB; Institute of Nutritional Science, Justus Liebig University Giessen, Giessen, Germany.
  • Lindner M; Division of Metabolic Diseases, University Children's Hospital Frankfurt, Frankfurt, Germany.
  • Märtner EMC; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Nuoffer JM; University Institute of Clinical Chemistry, University of Bern, Bern, Switzerland.
  • Okun JG; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Plecko B; Department of Paediatrics and Adolescent Medicine, Division of General Paediatrics, University Children's Hospital Graz, Medical University Graz, Graz, Austria.
  • Posset R; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Sahm K; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Scholl-Bürgi S; Evangelisches Waldkrankenhaus Spandau, Berlin, Germany.
  • Thimm E; Division of Experimental Paediatrics and Metabolism, Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.
  • Walter M; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Williams M; Department of Paediatrics, Centre for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Centre, Rotterdam, The Netherlands.
  • Vom Dahl S; Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, University of Düsseldorf, Düsseldorf, Germany.
  • Ziagaki A; Centre of Excellence for Rare Metabolic Diseases, Interdisciplinary Centre of Metabolism: Endocrinology, Diabetes and Metabolism, University-Medicine Berlin, Berlin, Germany.
  • Zschocke J; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
  • Kölker S; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
J Inherit Metab Dis ; 46(3): 482-519, 2023 05.
Article em En | MEDLINE | ID: mdl-36221165
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha