Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy

Neurology. 2019 Aug 13;93(7):310-312. doi: 10.1212/WNL.0000000000007951. Epub 2019 Jul 9.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Female
  • Humans
  • Leukodystrophy, Metachromatic / diagnosis
  • Leukodystrophy, Metachromatic / etiology*
  • Leukodystrophy, Metachromatic / genetics
  • Mutation / genetics
  • Saposins / deficiency*
  • Saposins / genetics

Substances

  • Saposins

Supplementary concepts

  • Metachromatic Leukodystrophy due to Saposin B Deficiency