Fabry Disease
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Lyso-GL-3: An important Fabry biomarker associated with adverse clinical outcomes
Biomarkers in Rare Diseases play a dual and significant role in supporting improved clinical outcomes. In Fabry Disease (FD), the glycosphingolipid globotriaosylceramide (Gb3/GL-3) and its… Read more
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Diagnostic Strategy for Females Suspected of Fabry Disease
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
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Novel diagnostics for Rare Disorders: Fabry in females, presented at WorldSymposium
ARCHIMEDlife News March 7, 2018The 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, 2017Background: 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
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
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