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Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.
Hoegen, Brechtje; Hampstead, Juliet E; Engelke, Udo F H; Kulkarni, Purva; Wevers, Ron A; Brunner, Han G; Coene, Karlien L M; Gilissen, Christian.
  • Hoegen B; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hampstead JE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Engelke UFH; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kulkarni P; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wevers RA; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.
  • Brunner HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Coene KLM; Department of Clinical Genetics, Maastricht University Medical Center, GROW School of Oncology and Development, MHENS School of Neuroscience, Maastricht University, Maastricht, The Netherlands.
  • Gilissen C; Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.
J Inherit Metab Dis ; 45(4): 682-695, 2022 07.
Article en En | MEDLINE | ID: mdl-35546254
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Metabolómica / Enfermedades Metabólicas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Metabolómica / Enfermedades Metabólicas Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Humans Idioma: En Año: 2022 Tipo del documento: Article