News and Publications

  • 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

  • The incidence of acid sphingomyelinase deficiency (ASMD) in cases of suspected Gaucher disease, genotype-phenotype correlation together with Lyso-SPM biomarker

    Publications , Diagnostics March 1, 2021

    This data was presented during the 11 February 2021 poster session of the 17th WORLDSymposium (virtual). Abstract In this prospective study, samples from 14,830 individuals… Read more