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Lysosomal Storage Disorders

  • Advanced diagnostics for Mucopolysaccharidoses

    ARCHIMEDlife News , Diagnostics December 7, 2020

    Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders affecting lysosomal metabolism. MPSs result in the accumulation of glycosaminoglycans in the body and can… Read more

  • New cut-offs for lysosomal enzyme activities.

    ARCHIMEDlife News June 6, 2019
    We are happy to inform you that we have introduced a new diagnostic assay for the analysis of lysosomal enzyme activities from Dried Blood Spots… Read more

  • First LEA assay launched

    ARCHIMEDlife News March 14, 2018
    LEA2 MPS Panel Our first LEA2 (Lysosomal Enzyme Activity) assay has now been started and with it several mucopolysaccharidoses (MPS) can be diagnosed from one… Read more

  • Novel diagnostics for Rare Disorders: Fabry in females, presented at WorldSymposium

    ARCHIMEDlife News March 7, 2018
    The 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

  • Neonatal screening for lysosomal storage disorders: Feasibility and incidence from a nationwide study in Austria

    ARCHIMEDlife News , Publications November 29, 2011
    Background: The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement therapies, the need for early diagnosis,… Read more