Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease

J Neurol. 2000 Nov;247(11):875-7. doi: 10.1007/s004150070076.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Brain / pathology
  • Exons
  • Female
  • Galactosylceramidase / genetics*
  • Gene Deletion*
  • Humans
  • Leukodystrophy, Globoid Cell / genetics*
  • Leukodystrophy, Globoid Cell / pathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Time Factors

Substances

  • Galactosylceramidase

Grants and funding