Macular cherry-red spots and myoclonus with dementia: coexistent neuraminidase and beta-galactosidase deficiencies

Biochem Biophys Res Commun. 1978 May 30;82(2):589-95. doi: 10.1016/0006-291x(78)90915-4.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cells, Cultured
  • Child
  • Dementia / enzymology*
  • Female
  • Fibroblasts / enzymology
  • Gangliosidoses / enzymology
  • Humans
  • Lactose Intolerance*
  • Leukocytes / enzymology
  • Lysosomes / enzymology
  • Macula Lutea*
  • Myoclonus / enzymology*
  • Neuraminidase / deficiency*
  • Pedigree
  • Retinal Diseases / enzymology*
  • Substrate Specificity

Substances

  • Neuraminidase