Berit Woldseth
- Chief Consultant; MD, PhD
- +47 230 71 059
Education
- 1990-1999: PhD, University of Oslo, Norway
- 1980-1986: MD, University of Oslo, Norway
Affiliation
- Metabolomics & Metabolic Molecular Biology Group, Department of Medical Biochemistry, Oslo University Hospital - Rikshospitalet, Norway
Research Summary
Dr. Woldseth is the Head of Section for Biochemical Genetics. During her PhD studies, she investigated the incorporation and stability of various fatty acids in phospholipids. Her current research interest focuses on inborn errors of metabolism.
Work Experience
- Since 1990: Oslo University Hospital - Rikshospitalet, Norway
Links
NB: Check out our NEWS PAGE for the latest!
Publications 2024
A monoallelic UXS1 variant associated with short-limbed short stature
Mol Genet Genomic Med, 12 (6), e2472
DOI 10.1002/mgg3.2472, PubMed 38860481
Publications 2023
The effects of transitioning from immediate release to extended release cysteamine therapy in Norwegian patients with nephropathic cystinosis: a retrospective study
Pediatr Nephrol, 38 (11), 3671-3679
DOI 10.1007/s00467-023-06005-w, PubMed 37219641
Publications 2020
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Int J Neonatal Screen, 6 (3), 51
DOI 10.3390/ijns6030051, PubMed 33123633
Publications 2017
Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency
JIMD Rep, 37, 45-47
DOI 10.1007/8904_2017_13, PubMed 28275973
Publications 2016
Identification of a novel BCKDHA deletion causing maple syrup urine disease
Meta Gene, 10, 86-89
DOI 10.1016/j.mgene.2016.02.004
Publications 2015
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
Hum Mol Genet, 24 (20), 5845-54
DOI 10.1093/hmg/ddv305, PubMed 26220973
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
J Inherit Metab Dis, 39 (2), 243-52
DOI 10.1007/s10545-015-9894-9, PubMed 26475597
Publications 2014
Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis
Metabolism, 63 (8), 1063-70
DOI 10.1016/j.metabol.2014.05.003, PubMed 24928662
Publications 2013
No effect of combined coenzyme Q10 and selenium supplementation on atorvastatin-induced myopathy
Scand Cardiovasc J, 47 (2), 80-7
DOI 10.3109/14017431.2012.756119, PubMed 23301875
Publications 2012
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
DOI 10.3109/00365513.2012.676210, PubMed 22554029
Metabolic acidosis mimicking diabetic ketoacidosis after use of calorie-free mineral water
Eur J Pediatr, 171 (9), 1405-7
DOI 10.1007/s00431-012-1723-7, PubMed 22457081
Publications 2011
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants
Mol Genet Metab, 104 (3), 289-94
DOI 10.1016/j.ymgme.2011.07.012, PubMed 21831683
Publications 2010
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
DOI 10.1016/j.ymgme.2010.04.017, PubMed 20570198
Plasma oxalate following kidney transplantation in patients without primary hyperoxaluria
Nephrol Dial Transplant, 25 (7), 2341-5
DOI 10.1093/ndt/gfq065, PubMed 20167571
Liquid chromatography-tandem mass spectrometry determination of oxalate in spot urine
Scand J Clin Lab Invest, 70 (3), 145-50
DOI 10.3109/00365510903578765, PubMed 20402602
Publications 2008
[A newborn infant with hyperventilation]
Tidsskr Nor Laegeforen, 128 (13), 1535-6
PubMed 18604903
Publications 2007
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
J Med Case Rep, 1, 98
DOI 10.1186/1752-1947-1-98, PubMed 17883863
Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study
BMC Pediatr, 7, 25
DOI 10.1186/1471-2431-7-25, PubMed 17597517
Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study
Acta Paediatr, 97 (1), 35-40
DOI 10.1111/j.1651-2227.2007.00579.x, PubMed 18076719
Publications 2006
[Mitochondrial beta-oxidation defects]
Tidsskr Nor Laegeforen, 126 (6), 756-9
PubMed 16541168
Publications 1999
Incorporation and stability of some fatty acids in phospholipids: studied in isolated liver cells
Institute of Clinical Biochemistry, National Hospital, University of Oslo, Oslo, 1 b. (flere pag.)
BIBSYS 990708802, ISBN 82-7633-118-1