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HSAN TYPE I CAUSED BY MUTATIONS IN SPTLC1 AND SPTLC2 IS CONSISTENTLY ASSOCIATED WITH REDUCED SPT ACTIVITY IN VITRO AND FORMATION OF DEOXYSPHINGOID BASES IN VIVO.

  • K Janssens
  • , A Rotthier
  • , A Penno
  • , K Van Hoof
  • , Michaela Auer-Grumbach
  • , T Hornemann
  • , V Timmerman

Research output: Contribution to journalConference abstract

Original languageEnglish
JournalJournal of the Peripheral Nervous System
Publication statusPublished - 2011
EventMeeting of the Peripheral Nerve Society - Potomac, United States
Duration: 25 Jun 201129 Jun 2011

Branches of science

  • 305 Other Human Medicine, Health Sciences
  • 302 Clinical Medicine

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