Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency

N Engl J Med. 1989 Jun 29;320(26):1735-40. doi: 10.1056/NEJM198906293202606.
No abstract available

Publication types

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

MeSH terms

  • Acetylgalactosamine / metabolism
  • Axons / pathology
  • Brain Diseases / genetics*
  • Brain Diseases / pathology
  • Child, Preschool
  • Glycoconjugates / analysis
  • Hexosaminidases / deficiency*
  • Hexosaminidases / immunology
  • Humans
  • Immunoblotting
  • Lysosomes / enzymology
  • Male
  • alpha-N-Acetylgalactosaminidase

Substances

  • Glycoconjugates
  • Hexosaminidases
  • NAGA protein, human
  • alpha-N-Acetylgalactosaminidase
  • Acetylgalactosamine