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NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum.
den Hollander, Bibiche; Rasing, Anne; Post, Merel A; Klein, Willemijn M; Oud, Machteld M; Brands, Marion M; de Boer, Lonneke; Engelke, Udo F H; van Essen, Peter; Fuchs, Sabine A; Haaxma, Charlotte A; Jensson, Brynjar O; Kluijtmans, Leo A J; Lengyel, Anna; Lichtenbelt, Klaske D; Østergaard, Elsebet; Peters, Gera; Salvarinova, Ramona; Simon, Marleen E H; Stefansson, Kari; Thorarensen, Ólafur; Ulmen, Ulrike; Coene, Karlien L M; Willemsen, Michèl A; Lefeber, Dirk J; van Karnebeek, Clara D M.
Afiliación
  • den Hollander B; Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.
  • Rasing A; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
  • Post MA; United for Metabolic Diseases, Amsterdam, Netherlands.
  • Klein WM; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
  • Oud MM; United for Metabolic Diseases, Amsterdam, Netherlands.
  • Brands MM; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.
  • de Boer L; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Engelke UFH; Department of Radiology and Nuclear Medicine and Anatomy, Radboud University Medical Centre, Nijmegen, Netherlands.
  • van Essen P; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.
  • Fuchs SA; Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam, Netherlands.
  • Haaxma CA; United for Metabolic Diseases, Amsterdam, Netherlands.
  • Jensson BO; Department of Pediatric Metabolic Diseases, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
  • Kluijtmans LAJ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Lengyel A; Radboudumc Technology Center Clinical Studies, Radboud University Medical Center, Nijmegen, Netherlands.
  • Lichtenbelt KD; United for Metabolic Diseases, Amsterdam, Netherlands.
  • Østergaard E; Department of Pediatric Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands.
  • Peters G; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands.
  • Salvarinova R; Decode Genetics/Amgen, Inc., Reykjavik, Iceland.
  • Simon MEH; United for Metabolic Diseases, Amsterdam, Netherlands.
  • Stefansson K; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Thorarensen Ó; 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
  • Ulmen U; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
  • Coene KLM; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Willemsen MA; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
  • Lefeber DJ; Department of Rehabilitation Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • van Karnebeek CDM; Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.
Front Neurol ; 12: 668640, 2021.
Article en En | MEDLINE | ID: mdl-34163424
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Guideline / Observational_studies Idioma: En Revista: Front Neurol Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Guideline / Observational_studies Idioma: En Revista: Front Neurol Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Suiza