Browsing BioMed Central høstingsarkiv by Author "Kanavin, Oivind J"

Now showing items 1-2 of 2

  • 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report 
    Kanavin, Oivind J; Woldseth, Berit; Jellum, Egil; Tvedt, Bjorn; Andresen, Brage S; Stromme, Petter (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2007)
    Background 2-methylbutyryl-CoA dehydrogenase deficiency or short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is caused by a defect in the degradation pathway of the amino acid L-isoleucine. ...
  • Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study 
    Stromme, Petter; Kanavin, Oivind J; Abdelnoor, Michael; Woldseth, Berit; Rootwelt, Terje; Diderichsen, Jorgen; Bjurulf, Bjorn; Sommer, Finn; Magnus, Per (Journal article / Tidsskriftartikkel / PublishedVersion; Peer reviewed, 2007)
    Background Progressive encephalopathy (PE) in children is a heterogeneous group of diseases mainly composed of metabolic diseases, but it consists also of neurodegenerative disorders where neither metabolic ...