Fabry Disease

  • Diagnostic Strategy for Females Suspected of Fabry Disease

    Publications , Diagnostics August 18, 2020

    Fabry disease (FD) is a X-linked inherited disorder where deficiency of the α-Galactosidase A (α-Gal A) enzyme causes Globotriaosylceramide (GL-3/Gb3) lipid accumulation in the cells… Read more

  • Novel diagnostics for Rare Disorders: Fabry in females, presented at WorldSymposium

    ARCHIMEDlife News March 7, 2018
    The parallel measurement of lyso-GL-3 (lyso-Gb3) for Fabry disease is of high importance particularly for potential female Fabry patients, otherwise women at risk might be… Read more
  • Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

    Publications July 5, 2017
    Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A… Read more
  • Metabolic progression to clinical phenotype in classic Fabry disease

    ARCHIMEDlife News , Publications January 3, 2017
    Background: Fabry disease is an X-linked lysosomal storage disorder due to α-galactosidase A (α-Gal A) deficiency. Clinical onset of Fabry disease is preceded by significant… Read more
  • Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

    ARCHIMEDlife News , Publications October 19, 2016
    Background: Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to mutations in the a-galactosidase A gene (GLA) that result in absent or markedly… Read more