Lysosomal Storage Disorders
Diagnostic Strategy for Females Suspected of Fabry Disease
18. February 2020
Fabry disease, an X-linked inherited lysosomal storage disorder, can be overlooked in heterozygous females due to random X-inactivation. In...
Read more
New cut-offs for lysosomal enzyme activities.
6. June 2019
We are happy to inform you that we have introduced a new diagnostic assay for the analysis of lysosomal...
Read more
First LEA assay launched
14. March 2018
LEA2 MPS Panel Our first LEA2 (Lysosomal Enzyme Activity) assay has now been started and with it several mucopolysaccharidoses...
Read more
Novel diagnostics for Rare Disorders: Fabry in females, presented at WorldSymposium
7. March 2018
The parallel measurement of lyso-GL-3 (lyso-Gb3) for Fabry disease is of high importance particularly for potential female Fabry patients,...
Read more
Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria
29. November 2011
Background: The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement...
Read more