SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease

J Inherit Metab Dis. 1989:12 Suppl 2:329-31. doi: 10.1007/BF03335413.
No abstract available

MeSH terms

  • Amidohydrolases / deficiency*
  • Awards and Prizes
  • Cells, Cultured
  • Demyelinating Diseases / enzymology
  • Demyelinating Diseases / genetics*
  • Fibroblasts / enzymology
  • Genetic Carrier Screening
  • Genetics, Medical
  • Humans
  • Reference Values
  • Skin / enzymology
  • Societies, Medical
  • United States

Substances

  • Amidohydrolases
  • aspartoacylase