Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase--a new presentation?

J Inherit Metab Dis. 1987;10(4):397-8. doi: 10.1007/BF01799983.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Basal Ganglia Diseases / complications*
  • Basal Ganglia Diseases / genetics
  • Calcinosis / complications*
  • Calcinosis / genetics
  • Child
  • Female
  • Humans
  • Male
  • Retinitis Pigmentosa / complications*
  • Retinitis Pigmentosa / genetics
  • alpha-L-Fucosidase / deficiency*

Substances

  • alpha-L-Fucosidase