Publications by Berit Woldseth
20 publications found
Original articles
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
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
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
Identification of a novel BCKDHA deletion causing maple syrup urine disease
Meta Gene, 10, 86-89
DOI 10.1016/j.mgene.2016.02.004
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
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
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
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
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
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
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
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
Plasma oxalate following kidney transplantation in patients without primary hyperoxaluria
Nephrol Dial Transplant, 25 (7), 2341-5
DOI 10.1093/ndt/gfq065, PubMed 20167571
[A newborn infant with hyperventilation]
Tidsskr Nor Laegeforen, 128 (13), 1535-6
PubMed 18604903
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
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
Review articles
[Mitochondrial beta-oxidation defects]
Tidsskr Nor Laegeforen, 126 (6), 756-9
PubMed 16541168
Theses
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