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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke, Udo Fh; van Outersterp, Rianne E; Merx, Jona; van Geenen, Fred Amg; van Rooij, Arno; Berden, Giel; Huigen, Marleen Cdg; Kluijtmans, Leo Aj; Peters, Tessa Ma; Al-Shekaili, Hilal H; Leavitt, Blair R; de Vrieze, Erik; Broekman, Sanne; van Wijk, Erwin; Tseng, Laura A; Kulkarni, Purva; Rutjes, Floris Pjt; Mecinovic, Jasmin; Struys, Eduard A; Jansen, Laura A; Gospe, Sidney M; Mercimek-Andrews, Saadet; Hyland, Keith; Willemsen, Michèl Aap; Bok, Levinus A; van Karnebeek, Clara Dm; Wevers, Ron A; Boltje, Thomas J; Oomens, Jos; Martens, Jonathan; Coene, Karlien Lm.
Afiliação
  • Engelke UF; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • van Outersterp RE; Institute for Molecules and Materials, FELIX Laboratory and.
  • Merx J; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands.
  • van Geenen FA; Institute for Molecules and Materials, FELIX Laboratory and.
  • van Rooij A; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Berden G; Institute for Molecules and Materials, FELIX Laboratory and.
  • Huigen MC; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Kluijtmans LA; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Peters TM; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Al-Shekaili HH; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.
  • Leavitt BR; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia Vancouver, British Columbia, Canada.
  • de Vrieze E; Centre for Molecular Medicine and Therapeutics, British Columbia Children's Hospital Research Institute, Department of Medical Genetics, University of British Columbia Vancouver, British Columbia, Canada.
  • Broekman S; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.
  • van Wijk E; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.
  • Tseng LA; Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.
  • Kulkarni P; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, Netherlands.
  • Rutjes FP; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Mecinovic J; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands.
  • Struys EA; Institute for Molecules and Materials, Synthetic Organic Chemistry, Radboud University, Nijmegen, Netherlands.
  • Jansen LA; Department of Physics, Chemistry and Pharmacy, University of Southern Denmark, Odense, Denmark.
  • Gospe SM; Department of Clinical Chemistry, Amsterdam University Medical Centers, location VU Medical Centre, Amsterdam, Netherlands.
  • Mercimek-Andrews S; Division of Pediatric Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Hyland K; Departments of Neurology and Pediatrics, University of Washington, Seattle, Washington, USA.
  • Willemsen MA; Department of Pediatrics, Duke University, Durham, North Carolina, USA.
  • Bok LA; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.
  • van Karnebeek CD; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
  • Wevers RA; Medical Neurogenetics Laboratories, Atlanta, Georgia, USA.
  • Boltje TJ; Department of Pediatric Neurology, Radboud University Medical Centre, Nijmegen, Netherlands.
  • Oomens J; Department of Pediatrics, Máxima Medical Centre, Veldhoven, Netherlands.
  • Martens J; Department of Pediatrics, Emma Children's Hospital, Amsterdam University Medical Centers, Amsterdam, Netherlands.
  • Coene KL; Department of Pediatrics-Metabolic Diseases, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
J Clin Invest ; 131(15)2021 08 02.
Article em En | MEDLINE | ID: mdl-34138754
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos Pipecólicos / Epilepsia / Metabolômica Tipo de estudo: Screening_studies Limite: Animals / Child / Female / Humans Idioma: En Revista: J Clin Invest Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos Pipecólicos / Epilepsia / Metabolômica Tipo de estudo: Screening_studies Limite: Animals / Child / Female / Humans Idioma: En Revista: J Clin Invest Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda