Publications 2024

Rustad CF, Backe PH, Jin C, Merckoll E, Tveten K, Maciej-Hulme ML, Karlsson N, Prescott T, Sand ES, Woldseth B, Elgstøen KBP, Holla ØL (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

Bjerre A, Aase SA, Radtke M, Siva C, Gudmundsdottir H, Forsberg B, Woldseth B, Brackman D (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

Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D et al. (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

Reigstad H, Woldseth B, Häberle J (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

Bremer S, Bliksrud YT, Rootwelt H, Woldseth B, Tangeraas T, Saeves I, Watle SSV (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

Barøy T, Koster J, Strømme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E (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

Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I et al. (2015)
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

Strand JM, Skinnes R, Scheffler K, Rootvelt T, Woldseth B, Bjørås M, Eide L (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

Bogsrud MP, Langslet G, Ose L, Arnesen KE, Sm Stuen MC, Malt UF, Woldseth B, Retterstøl K (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

Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H (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

Dahl GT, Woldseth B, Lindemann R (2012)
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

Bremer S, Ohlsson A, Brodtkorb E, Rootwelt H, Rootwelt T, Woldseth B, Mørkrid L (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

Brodtkorb E, Strand J, Backe PH, Lund AM, Bjørås M, Rootwelt T, Rootwelt H, Woldseth B, Eide L (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

Elgstoen KB, Johnsen LF, Woldseth B, Morkrid L, Hartmann A (2010)
Plasma oxalate following kidney transplantation in patients without primary hyperoxaluria
Nephrol Dial Transplant, 25 (7), 2341-5
DOI 10.1093/ndt/gfq065, PubMed 20167571

Elgstoen KB, Woldseth B, Hoie K, Morkrid L (2010)
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

Lindemann R, Myhre MC, Bakken M, Fugelseth D, Rustad CF, Woldseth B (2008)
[A newborn infant with hyperventilation]
Tidsskr Nor Laegeforen, 128 (13), 1535-6
PubMed 18604903

Publications 2007

Kanavin OJ, Woldseth B, Jellum E, Tvedt B, Andresen BS, Stromme P (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

Stromme P, Kanavin OJ, Abdelnoor M, Woldseth B, Rootwelt T, Diderichsen J, Bjurulf B, Sommer F, Magnus P (2007)
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

Strømme P, Magnus P, Kanavin ØJ, Rootwelt T, Woldseth B, Abdelnoor M (2007)
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

Woldseth B, Rootwelt T (2006)
[Mitochondrial beta-oxidation defects]
Tidsskr Nor Laegeforen, 126 (6), 756-9
PubMed 16541168

Publications 1999

Woldseth B (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