A new mutation in an infant with Krabbe disease accompanied by enlargement of the optic nerves

Acta Neurol Belg. 2017 Mar;117(1):319-321. doi: 10.1007/s13760-016-0637-y. Epub 2016 Apr 4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Galactosylceramidase / genetics*
  • Humans
  • Leukodystrophy, Globoid Cell / complications*
  • Leukodystrophy, Globoid Cell / diagnostic imaging
  • Leukodystrophy, Globoid Cell / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Optic Nerve / diagnostic imaging
  • Optic Nerve Diseases / diagnostic imaging
  • Optic Nerve Diseases / etiology*

Substances

  • Galactosylceramidase