Publications

  • 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

  • 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

  • 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

  • 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