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Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
Coene, Karlien L M; Kluijtmans, Leo A J; van der Heeft, Ed; Engelke, Udo F H; de Boer, Siebolt; Hoegen, Brechtje; Kwast, Hanneke J T; van de Vorst, Maartje; Huigen, Marleen C D G; Keularts, Irene M L W; Schreuder, Michiel F; van Karnebeek, Clara D M; Wortmann, Saskia B; de Vries, Maaike C; Janssen, Mirian C H; Gilissen, Christian; Engel, Jasper; Wevers, Ron A.
Afiliação
  • Coene KLM; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands. Karlien.Coene@radboudumc.nl.
  • Kluijtmans LAJ; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.
  • van der Heeft E; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.
  • Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.
  • de Boer S; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.
  • Hoegen B; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.
  • Kwast HJT; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.
  • van de Vorst M; Department of Human Genetics, Donders Institute of Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Huigen MCDG; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.
  • Keularts IMLW; Department of Clinical Genetics, Laboratory of Biochemical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Schreuder MF; Department of Pediatric Nephrology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Karnebeek CDM; Department of Genetic Metabolic Disorders, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
  • Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
  • de Vries MC; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Janssen MCH; Department of Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Gilissen C; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Engel J; Department of Human Genetics, Donders Institute of Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wevers RA; Institute for Molecules and Materials, Radboud University Nijmegen, Nijmegen, The Netherlands.
J Inherit Metab Dis ; 41(3): 337-353, 2018 05.
Article em En | MEDLINE | ID: mdl-29453510
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Metaboloma / Ensaios de Triagem em Larga Escala / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Metaboloma / Ensaios de Triagem em Larga Escala / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos