Differential Diagnosis

  • 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

  • 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