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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Ferreira, Elise A; Veenvliet, Annemarijne R J; Engelke, Udo F H; Kluijtmans, Leo A J; Huigen, Marleen C D G; Hoegen, Brechtje; de Boer, Lonneke; de Vries, Maaike C; van Bon, Bregje W; Leenders, Erika; Cornelissen, Elisabeth A M; Haaxma, Charlotte A; Schieving, Jolanda H; Rubio-Gozalbo, M Estela; Körver-Keularts, Irene M L W; Marten, Lara M; Diegmann, Susann; Mourmans, Jeroen; Rennings, Alexander J M; van Karnebeek, Clara D M; Rodenburg, Richard J; Coene, Karlien L M.
Afiliação
  • Ferreira EA; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands.
  • Veenvliet ARJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.
  • Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoegen B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Boer L; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Vries MC; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Leenders E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Cornelissen EAM; Department of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schieving JH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Rubio-Gozalbo ME; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Pediatrics, Maastricht University Medical Centre, Maastricht University, Maastricht, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands; GR
  • Körver-Keularts IMLW; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht University, Maastricht, The Netherlands.
  • Marten LM; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany.
  • Diegmann S; Division of Pediatric Neurology, Department of Pediatrics and Adolescent Medicine, University Medical Centre Göttingen, University of Göttingen, Göttingen, Germany.
  • Mourmans J; Department of Pediatrics, Deventer Ziekenhuis, Deventer, The Netherlands.
  • Rennings AJM; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Karnebeek CDM; Department of Pediatrics, Emma Children's Hospital, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Centers, Amsterdam, The Netherlands; United for Metabolic Diseases, Amsterdam, The Netherlands; Department of Human Genetics, Amsterdam Reproduction and Development,
  • Rodenburg RJ; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Richard.Rodenburg@radboud
  • Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands; Department of Clinical Chemistry and Hematology, Elisabeth-TweeSteden Hospital, Tilburg, The Netherlands.
Genet Med ; 25(1): 125-134, 2023 01.
Article em En | MEDLINE | ID: mdl-36350326
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Tardio / Doenças Metabólicas Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Tardio / Doenças Metabólicas Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article