News and Publications

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Lysosomal Storage Disorders

  • Newborn Screening for Metachromatic Leukodystrophy in Northern Germany – A prospective study

    Publications , Newborn Screening March 1, 2021

    This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Introduction Metachromatic leukodystrophy (MLD) is a rare, fatal autosomal-recessive… Read more

  • At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening

    Publications , Diagnostics January 20, 2021

    Pompe disease, also known as glycogen storage disease type II (GSD II), is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme… Read more

  • 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