WEBPORTAL

  • Update on screening cut-offs for Gaucher and Pompe diseases

    April 28, 2025

    Effective 1 May 2025, the cut-off values for enzymatic testing for Gaucher and Pompe diseases have changed.The new Glucocerebrosidase (Gaucher) cut-off is changed to >1.2 µmol/L/h (old… Read more

  • MedLab Dubai

    MedLab Dubai. New directors appointed.

    ARCHIMEDlife News October 23, 2023
    New directors appointed: @Gröning, MD, as Medical Director, Dr. med. Thomas Winkler , MD and David C. Kasper (also as Manager). Our mission together with our highly experienced local… 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

  • 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