Publications

  • 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

  • Importance of including ASMD diagnostics in suspected Gaucher patients

    Publications , Diagnostics August 4, 2020

    Acid Sphingomyelinase deficiency (ASMD), also known as Niemann-Pick Type A/B, is characterized by an enzyme deficiency that leads to the toxic accumulation of sphingomyelin. “Recent… Read more

  • OPEN LETTER – We stay open for you and your patients – Please read

    ARCHIMEDlife News , Publications March 15, 2020

    We stay open for you and your patients! We used the last days to prepare us to continue our work and services on the highest… Read more

  • Hemoglobinopathies and β-Thalassemia: Investigating High-Res Mass Spectrometry

    Publications , Diagnostics February 18, 2020

    Early diagnosis of hemoglobin disorders and Thalassemias are become more important due to a high carrier frequency and ease of global migration. In a prospective… Read more

  • Awarded work: Hemoglobinopathies and Thalassemias

    Our awarded work (Poster Finalist at MSACL Europe, also see the PDF Poster Hemoglobinopathies_MSACL) on hemoglobinopathies and thalassemias is now starting into a prospective study in… Read more