Renal and brain complications in GLA p.Phe113Leu Fabry disease. Comments on "Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males" by Oliveira et al. (Eur. J. Med. Genet. 2019)

Eur J Med Genet. 2020 Apr;63(4):103847. doi: 10.1016/j.ejmg.2020.103847. Epub 2020 Jan 13.
No abstract available

Keywords: Anderson Fabry disease; GLA gene; Hypertrophic cardiomyopathy; Late onset variant; p.Phe113Leu.

Publication types

  • Letter
  • Comment

MeSH terms

  • Brain
  • Fabry Disease*
  • Humans
  • Kidney
  • Male
  • Pedigree
  • alpha-Galactosidase

Substances

  • alpha-Galactosidase