Blar i Department of Clinical Medicine på forfatter "Blomqvist, Maria"

Viser treff 1-2 av 2

    • GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies 

      Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence (Peer reviewed; Journal article, 2017-01-04)
      Background: With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families ...

    • Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype 

      Elsaid, Hassan Osman Alhassan; Furriol, Jessica; Blomqvist, Maria; Diswall, Mette; Leh, Sabine; Gharbi, Naouel; Anonsen, Jan Haug; Babickova, Janka; Tøndel, Camilla; Svarstad, Einar; Marti, Hans Peter; Krause, Maximilian (Journal article; Peer reviewed, 2022)
      Fabry disease (FD) is a rare genetic lysosomal storage disorder, resulting from partial or complete lack of alpha-galactosidase A (α-GAL) enzyme, leading to systemic accumulation of substrate glycosphingolipids with a broad ...