High incidence of α-Mannosidosis in ‘MPS-like’ phenotypes

2. September 2020

α-Mannosidosis is an inherited lysosomal storage disorder caused by genetic mutations leading to limited or no expression of a...

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Diagnostic Strategy for Females Suspected of Fabry Disease

18. August 2020

Fabry disease (FD) is a X-linked inherited disorder where deficiency of the α-Galactosidase A (α-Gal A) enzyme causes Globotriaosylceramide...

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Importance of including ASMD diagnostics in suspected Gaucher patients

4. August 2020

Acid Sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Type A/B, is characterized by an enzyme deficiency that leads to...

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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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