• Bone mineral density and vitamin D in paediatric intestinal failure patients receiving home parenteral nutrition 

      Kvammen, Janne Anita; Thomassen, Rut Anne; Kjeserud, Christina; Sæland, Camilla; Godang, Kristin; Bollerslev, Jens; Thorsby, Per Medbøe; Juliusson, Petur Benedikt; Bentsen, Beint Sigmund; Henriksen, Christine (Journal article; Peer reviewed, 2020)
      Background & aims Patients with intestinal failure (IF) are dependent on long-term home parenteral nutrition (HPN) to ensure growth and development. The primary aim of the present study was to assess bone mineral density ...
    • STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity 

      Heimdal, Ketil; Sanchez-Guixé, Monica; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove; Jablonski, Greg Eigner; Erichsen, Anne Kjersti; Gude, Einar; Koht, Jeanette A.; Erdal, Sigrid; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Boman, Helge; Bjørkhaug, Lise; Tallaksen, Chantal M. E.; Knappskog, Per; Johansson, Stefan (Peer reviewed; Journal article, 2014-09-26)
      Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is ...