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Publications by Else Brodtkorb

5 publications found

Original articles

Backe PH, Ytre-Arne M, Røhr AK, Brodtkorb E, Fowler B, Rootwelt H, Bjørås M, Mørkrid L (2013)
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
JIMD Rep, 11, 79-85
DOI 10.1007/8904_2013_225, PubMed 23580368

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

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

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

Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IE, Kvittingen EA (2005)
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect
J Mol Med (Berl), 83 (5), 406-10
DOI 10.1007/s00109-005-0648-2, PubMed 15759101