NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

  • Nicole J. Van Bergen
  • , Yiran Guo
  • , Julia Rankin
  • , Nicole Paczia
  • , Julia Becker-Kettern
  • , Laura S. Kremer
  • , Angela Pyle
  • , Jean François Conrotte
  • , Carolyn Ellaway
  • , Peter Procopis
  • , Kristina Prelog
  • , Tessa Homfray
  • , Júlia Baptista
  • , Emma Baple
  • , Matthew Wakeling
  • , Sean Massey
  • , Daniel P. Kay
  • , Anju Shukla
  • , Katta M. Girisha
  • , Leslie E.S. Lewis
    • Saikat Santra, Rachel Power, Piers Daubeney, Julio Montoya, Eduardo Ruiz-Pesini, Reka Kovacs-Nagy, Martin Pritsch, Uwe Ahting, David R. Thorburn, Holger Prokisch, Robert W. Taylor, John Christodoulou, Carole L. Linster, Sian Ellard, Hakon Hakonarson

Research output: Contribution to journal › Article › peer-review

61 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology