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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy, Nikolas; Mühlhausen, Chris; Maier, Esther M; Heringer, Jana; Assmann, Birgit; Burgard, Peter; Dixon, Marjorie; Fleissner, Sandra; Greenberg, Cheryl R; Harting, Inga; Hoffmann, Georg F; Karall, Daniela; Koeller, David M; Krawinkel, Michael B; Okun, Jürgen G; Opladen, Thomas; Posset, Roland; Sahm, Katja; 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, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany. Nikolas.Boy@med.uni-heidelberg.de.
  • Mühlhausen C; University Children's Hospital, University Medical Centre Hamburg-Eppendorf, Martinistrasse 52, D-20246, Hamburg, Germany.
  • Maier EM; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany.
  • Heringer J; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Assmann B; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Burgard P; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Dixon M; Dietetics, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
  • Fleissner S; Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany.
  • Greenberg CR; Department of Pediatrics, Children's Hospital Health Sciences Centre and University of Manitoba, Winnipeg, MB, R3A 1R9, Canada.
  • Harting I; Department of Biochemistry and Medical Genetics, Children's Hospital Health Sciences Centre and University of Manitoba, Winnipeg, MB, R3A 1R9, Canada.
  • Hoffmann GF; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Karall D; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.
  • Koeller DM; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Krawinkel MB; Clinic for Paediatrics I, Inherited Metabolic Disorders, Medical, University of Innsbruck, Innsbruck, Austria.
  • Okun JG; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR, USA.
  • Opladen T; Justus Liebig University Giessen, Institute of Nutritional Science, Giessen, Germany.
  • Posset R; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Sahm K; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Zschocke J; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
  • Kölker S; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
J Inherit Metab Dis ; 40(1): 75-101, 2017 01.
Article em En | MEDLINE | ID: mdl-27853989
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Glutaril-CoA Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias Metabólicas / Glutaril-CoA Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Alemanha País de publicação: Estados Unidos