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Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency.
Böhm, Hans-Otto; Yazdani, Mazyar; Sandås, Elise Mørk; Østeby Vassli, Anja; Kristensen, Erle; Rootwelt, Helge; Skogvold, Hanne Bendiksen; Brodtkorb, Eylert; Elgstøen, Katja Benedikte Prestø.
Afiliação
  • Böhm HO; Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.
  • Yazdani M; Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.
  • Sandås EM; Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.
  • Østeby Vassli A; Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.
  • Kristensen E; Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.
  • Rootwelt H; Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.
  • Skogvold HB; Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.
  • Brodtkorb E; Department of Mechanical, Electronic and Chemical Engineering, Faculty of Technology, Art and Design, Oslo Metropolitan University, Pilestredet 35, 0166 Oslo, Norway.
  • Elgstøen KBP; Department of Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology, 7491 Trondheim, Norway.
Int J Mol Sci ; 23(24)2022 Dec 16.
Article em En | MEDLINE | ID: mdl-36555701

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aldeído Desidrogenase / Epilepsia Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Infant / Newborn Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Noruega

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aldeído Desidrogenase / Epilepsia Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Infant / Newborn Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Noruega