The molecular detection of the pseudodeficiency allele for arylsulphatase A in patients with neurological symptoms and low arylsulphatase A activity

J Inherit Metab Dis. 1993;16(6):1048-9. doi: 10.1007/BF00711527.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Brain Diseases, Metabolic / diagnosis
  • Brain Diseases, Metabolic / enzymology
  • Brain Diseases, Metabolic / genetics*
  • Cerebroside-Sulfatase / deficiency*
  • Cerebroside-Sulfatase / genetics
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Genetic Testing
  • Humans
  • Leukodystrophy, Metachromatic / diagnosis
  • Leukodystrophy, Metachromatic / enzymology
  • Leukodystrophy, Metachromatic / genetics*
  • Male

Substances

  • Cerebroside-Sulfatase