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...

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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...

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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...

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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,...

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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...

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