A case of ASAH1-related pure SMA evolving into adult-onset Farber disease

Clin Genet. 2021 Aug;100(2):234-235. doi: 10.1111/cge.13974.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Acid Ceramidase / genetics*
  • Farber Lipogranulomatosis / etiology*
  • Farber Lipogranulomatosis / genetics
  • Farber Lipogranulomatosis / therapy
  • Female
  • Humans
  • Middle Aged
  • Muscular Atrophy, Spinal / complications*
  • Muscular Atrophy, Spinal / etiology
  • Muscular Atrophy, Spinal / genetics*
  • Respiration, Artificial
  • Vital Capacity

Substances

  • ASAH1 protein, human
  • Acid Ceramidase