News and Publications

  • In-person Conferences once again!

    ARCHIMEDlife News , Publications January 17, 2022

    With the start of 2022, ARCHIMEDlife is pleased to announce that we will be once again attending in-person conferences! The WORLDSymposium for lysosomal disease research… Read more

  • Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

    Publications , Diagnostics August 13, 2021

    Mucopolysaccharidosis IVA (MPS IVA, Morquio A syndrome) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene. We collected,… Read more

  • The amedes group supports the NCL Foundation in Germany

    ARCHIMEDlife News May 7, 2021

    In January, the amedes group called on their employees to nominate charitable organizations to be supported by the amedes group in the future. The overwhelming… Read more

  • Lyso-GL-3: An important Fabry biomarker associated with adverse clinical outcomes

    Publications , Diagnostics April 1, 2021

    Biomarkers in Rare Diseases play a dual and significant role in supporting improved clinical outcomes. In Fabry Disease (FD), the glycosphingolipid globotriaosylceramide (Gb3/GL-3) and its… Read more

  • New testing options for Cerebrotendinous Xanthomatosis (CTX)

    ARCHIMEDlife News , Diagnostics March 10, 2021

    About CTX: CTX (cerebrotendinous xanthomatosis) is a rare and serious disease of bile acid metabolism with an estimated incidence of about 1:50,000. The disease is… Read more

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

    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