Noticias y publicaciones

Noticias y publicaciones

  • MedLab Dubai

    MedLab Dubai. New directors appointed.

    ARCHIMEDlife News octubre 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… Leer más
  • Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease

    Diagnostics , Publications junio 1, 2023

    Acid sphingomyelinase deficiency (ASMD), commonly called Niemann-Pick A/B disease, is an autosomal recessively inherited lysosomal storage disorder resulting from a deficiency in acid sphingomyelinase (ASM)… Leer más

  • Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants

    Diagnostics , Publications agosto 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,… Leer más

  • Lyso-GL-3: An important Fabry biomarker associated with adverse clinical outcomes

    Diagnostics , Publications abril 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… Leer más