- Senior Consultant; MD, PhD
- +47 230 70 922; +47 988 42 242
- 1995: PhD (Dr. med.), University of Oslo, Norway.
- 1985: Medical Doctor (Cand. med.), University of Oslo, Norway.
- Metabolomics and Metabolic Molecular Biology Group, Department of Medical Biochemistry, Oslo University Hospital - Rikshospitalet, Norway.
Doctoral thesis "Studies on the molecular Genetics of tyrosinaemia type I" defended Oct 24th, 1995.
Main research interests are Inborn Errors of Metabolism (IEM), Genetic analyses primarily using DNA sequencing, in vitro mutagenesis and gene expression and allele detection using real time PCR analyses in relation to IEM, pharmacogenetics, cognitive function and melanomas and other disorders.
Main focus since 2014 is Metabolomics using Liquid Chromatography and High Resolution Mass Spectrometry analyses to establish a robust platform for research and diagnostics in IEM, Clincial Chemistry and in collaborative clinical studies with experts in the relevant fields.
- Nov 1996-to date: Oslo University Hospital - Rikshospitalet, Oslo, Norway.
- 1996 Aug-Nov: Sonja Henie’s Medical Center, Oslo, Norway.
- Aug 1988-Jul 1996: Oslo University Hospital - Rikshospitalet, Oslo, Norway.
- Nov 1987-July 1988: Military physician in His Majesty the King’s Guard, Norway.
- 1987 Jan-July: Municipality of Meløy, Norway.
- Jan 1986-Jan 1987: Nordland sentralsykehus, Norway.
Teacher of medicine at the Faculty of Medicine, Oslo University and Oslo Metropolitan University in periods.
Supervisor of Bachelor, Master and PhD students at the University of Oslo and Oslo Metropolitan University.
Board Member and Chairman of national and nordic societies in Medical Biochemistry and Clinical Chemistry for periods of time.
Acting Head of Department and Section leader for periods of time at Department of Clinical Chemistry, Rikshospitalet University Hospital and Department of Medical Biochemistry, Oslo University Hospital for periods of time.
Effects of nutrition therapy on growth, inflammation and metabolism in immature infants: a study protocol of a double-blind randomized controlled trial (ImNuT)
BMC Pediatr, 21 (1), 19
APOE - a genetic marker of comorbidity in subjects with morbid obesity
BMC Med Genet, 21 (1), 146
Tear Metabolomics in Dry Eye Disease: A Review
Int J Mol Sci, 20 (15)
Identification of a novel BCKDHA deletion causing maple syrup urine disease
Meta Gene, 10, 86-89
Simultaneous quantification of IMPDH activity and purine bases in lymphocytes using LC-MS/MS: assessment of biomarker responses to mycophenolic acid
Ther Drug Monit, 36 (1), 108-18
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
JIMD Rep, 11, 79-85
Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene
Scand J Clin Lab Invest, 72 (5), 369-73
MC1R, ASIP, TYR, and TYRP1 gene variants in a population-based series of multiple primary melanomas
Genes Chromosomes Cancer, 51 (7), 654-61
Effects of APOE on brain white matter microstructure in healthy adults
Neurology, 79 (19), 1961-9
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants
Mol Genet Metab, 104 (3), 289-94
DNA base excision repair gene polymorphisms modulate human cognitive performance and decline during normal life span
Mech Ageing Dev, 132 (8-9), 449-58
Increased hippocampal default mode synchronization during rest in middle-aged and elderly APOE ε4 carriers: relationships with memory performance
J Neurosci, 31 (21), 7775-83
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation
Mol Genet Metab, 100 (4), 324-32
Nicotinic receptor gene CHRNA4 interacts with processing load in attention
PLoS One, 5 (12), e14407
Apolipoprotein E ε4-related thickening of the cerebral cortex modulates selective attention
Neurobiol Aging, 33 (2), 304-322.e1
Epistasis between APOE and nicotinic receptor gene CHRNA4 in age related cognitive function and decline
J Int Neuropsychol Soc, 16 (3), 424-32
Suggestive evidence of associations between liver X receptor β polymorphisms with type 2 diabetes mellitus and obesity in three cohort studies: HUNT2 (Norway), MONICA (France) and HELENA (Europe)
BMC Med Genet, 11, 144
Mycophenolate pharmacokinetics and pharmacodynamics in belatacept treated renal allograft recipients - a pilot study
J Transl Med, 7, 64
Apolipoprotein E modulates auditory event-related potentials in healthy aging
Neurosci Lett, 459 (2), 91-5
Individual variation in a cholinergic receptor gene modulates attention
Neurosci Lett, 453 (3), 131-4
Working memory deficits in healthy APOE epsilon 4 carriers
Neuropsychologia, 48 (2), 566-73
Hippocampal volumes are important predictors for memory function in elderly women
BMC Med Imaging, 9, 17
Expression of IMPDH1 and IMPDH2 after transplantation and initiation of immunosuppression
Transplantation, 85 (1), 55-61
Expression of IMPDH1 is regulated in response to mycophenolate concentration
Int Immunopharmacol, 9 (2), 173-80
Apolipoprotein E genotype and risk for development of cataract and age-related macular degeneration
Acta Ophthalmol, 86 (4), 401-3
Pharmacodynamics of mycophenolic acid in CD4+ cells: a single-dose study of IMPDH and purine nucleotide responses in healthy individuals
Ther Drug Monit, 30 (6), 647-55
Real-time PCR determination of IMPDH1 and IMPDH2 expression in blood cells
Clin Chem, 53 (6), 1023-9
Nicotine receptor gene CHRNA4 modulates early event-related potentials in auditory and visual oddball target detection tasks
Neuroscience, 147 (4), 974-85
Effects of APOE and CHRNA4 genotypes on retinal nerve fibre layer thickness at the optic disc and on risk for developing exfoliation syndrome
Acta Ophthalmol Scand, 85 (3), 257-61
Essential fatty acid deficiency induces fatty acid desaturase expression in rat epididymis, but not in testis
Reproduction, 133 (2), 467-77
Tidsskr Nor Laegeforen, 126 (18), 2364
Interactive effects of APOE and CHRNA4 on attention and white matter volume in healthy middle-aged and older adults
Cogn Affect Behav Neurosci, 6 (1), 31-43
Accelerated age-related cortical thinning in healthy carriers of apolipoprotein E epsilon 4
Neurobiol Aging, 29 (3), 329-40
The G protein beta3 subunit 825C allele is associated with sudden infant death due to infection
Acta Paediatr, 95 (9), 1129-32
Expression and regulation of delta5-desaturase, delta6-desaturase, stearoyl-coenzyme A (CoA) desaturase 1, and stearoyl-CoA desaturase 2 in rat testis
Biol Reprod, 69 (1), 117-24
[Individualized pharmacotherapy based on cytochrome P-450 (CYP) genotyping]
Tidsskr Nor Laegeforen, 122 (29), 2781-3
Pharmacokinetics of diltiazem and its metabolites in relation to CYP2D6 genotype
Clin Pharmacol Ther, 72 (3), 333-42
Association between apolipoprotein E genotypes and cancer risk in patients with acquired immunodeficiency syndrome
Cancer Detect Prev, 24 (5), 496-9
HIV dementia and apolipoprotein E
Acta Neurol Scand, 95 (5), 315-8
Fumarylacetoacetase mutations in tyrosinaemia type I
Hum Mutat, 7 (3), 239-43
Studies on the molecular genetics of tyrosinaemia type 1
Institute of Clinical Biochemistry, University of Oslo, Rikshospitalet, [Oslo], 1 b. (flere pag.)
Self-induced correction of the genetic defect in tyrosinemia type I
J Clin Invest, 94 (4), 1657-61
Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1
Am J Hum Genet, 55 (4), 653-8
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I
Am J Hum Genet, 55 (6), 1122-7
Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase
Hum Genet, 93 (6), 615-9
Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene
Hum Genet, 94 (3), 235-9
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect
J Clin Invest, 91 (4), 1816-21
Hereditary tyrosinemia type I: lack of correlation between clinical findings and amount of immunoreactive fumarylacetoacetase protein
Pediatr Res, 31 (1), 43-6
The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency
Hum Genet, 89 (2), 229-33