Identification of new α-galactosidase A mutation responsible for Fabry disease: A case report

Clin Nephrol. 2019 Feb;91(2):126-128. doi: 10.5414/CN109501.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Fabry Disease / complications
  • Fabry Disease / diagnosis
  • Fabry Disease / genetics*
  • Fabry Disease / pathology*
  • Glycolipids / blood
  • Humans
  • Male
  • Mutation
  • Proteinuria / etiology
  • Sphingolipids / blood
  • alpha-Galactosidase / genetics*

Substances

  • Glycolipids
  • Sphingolipids
  • globotriaosyl lysosphingolipid
  • alpha-Galactosidase