News and Publications

  • 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

  • Our new look: Updated website design, more information

    ARCHIMEDlife News December 21, 2020

    We are pleased to announce the release of our updated and streamlined website. You can find all the relevant information on our available diagnostic services… Read more

  • Staying focused on Rare Diseases

    ARCHIMEDlife News , Diagnostics December 14, 2020

    At ARCHIMEDlife, our focus continues to be on Rare Diseases and special diagnostics. Since March 2020, COVID-19 has challenged us all both personally and professionally.… 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

  • High incidence of α-Mannosidosis in ‘MPS-like’ phenotypes

    Publications , Diagnostics September 2, 2020

    α-Mannosidosis is an inherited lysosomal storage disorder caused by genetic mutations leading to limited or no expression of a gene responsible for metabolizing oligosaccharides. Besides… Read more

  • Diagnostic Strategy for Females Suspected of Fabry Disease

    Publications , Diagnostics August 18, 2020

    Fabry disease (FD) is a X-linked inherited disorder where deficiency of the α-Galactosidase A (α-Gal A) enzyme causes Globotriaosylceramide (GL-3/Gb3) lipid accumulation in the cells… Read more