Lysosomal Storage Disorders
ARCHIMEDlife News, Biotech & Pharma, Healthcare Professionals, Publications, Rare Diseases, WEBPORTAL
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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ARCHIMEDlife News, Biotech & Pharma, Healthcare Professionals, Publications, Rare Diseases, WEBPORTAL
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...
Read moreImportance 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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