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The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Hülsmeier, Andreas J; Toelle, Sandra P; Bellstedt, Peter; Wentzel, Christian; Bahr, Angela; Kolokotronis, Konstantinos; Hornemann, Thorsten.
Afiliação
  • Hülsmeier AJ; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland. Electronic address: andreas.huelsmeier@uzh.ch.
  • Toelle SP; Department of Pediatric Neurology, University Children's Hospital, Zurich, University of Zurich, Zurich, Switzerland.
  • Bellstedt P; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.
  • Wentzel C; Department of Women's and Children's Health, Pediatric Oncological and Neurological Research, Uppsala University, Uppsala, Sweden.
  • Bahr A; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.
  • Kolokotronis K; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.
  • Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland. Electronic address: thorsten.hornemann@usz.ch.
J Lipid Res ; 64(12): 100464, 2023 12.
Article em En | MEDLINE | ID: mdl-37890668
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Cogan / Doenças do Sistema Nervoso Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Cogan / Doenças do Sistema Nervoso Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article