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Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg, Tessa; Molero-Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg F; Assmann, Birgit; Blau, Nenad; Garcia-Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni S; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip L; Lee, Wang Tso; Kurian, Manju A; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, Michèl; Opladen, Thomas.
Afiliación
  • Wassenberg T; Department of Neurology and Child Neurology, Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Molero-Luis M; Department of Clinical Biochemistry, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • Jeltsch K; Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
  • Hoffmann GF; Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
  • Assmann B; Department of Child Neurology and Metabolic Disorders, University Children's Hospital, Heidelberg, Germany.
  • Blau N; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany.
  • Garcia-Cazorla A; Department of Child Neurology, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • Artuch R; Department of Clinical Biochemistry, CIBERER-ISCIII, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.
  • Pons R; First Department of Pediatrics, Pediatric Neurology Unit, Agia Sofia Hospital, National and Kapodistrian University of Athens, Athens, Greece.
  • Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, USA.
  • Leuzzi V; Department of Pediatrics and Child Neuropsychiatry, Sapienza Università di Roma, Rome, Italy.
  • Mastrangelo M; Department of Pediatrics and Child Neuropsychiatry, Sapienza Università di Roma, Rome, Italy.
  • Pearl PL; Department of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Harvard Medical School, Boston, USA.
  • Lee WT; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
  • Kurian MA; Developmental Neurosciences, UCL- Institute of Child Health and Department of Neurology, Great Ormond Street Hospital for Children NHS Foundations Trust, London, UK.
  • Heales S; Laboratory Medicine, Great Ormond Street Hospital and Neurometabolic Unit, National Hospital, London, UK.
  • Flint L; AADC research trust, London, UK.
  • Verbeek M; Department of Neurology and Child Neurology, Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Willemsen M; Department Laboratory Medicine, Alzheimer Centre, Radboud university medical center, Nijmegen, The Netherlands.
  • Opladen T; Department of Neurology and Child Neurology, Radboud university medical center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
Orphanet J Rare Dis ; 12(1): 12, 2017 01 18.
Article en En | MEDLINE | ID: mdl-28100251
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Descarboxilasas de Aminoácido-L-Aromático / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Descarboxilasas de Aminoácido-L-Aromático / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2017 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido