Brodtkorb E - Search Results

1

Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.

Brodtkorb E, Strand J, Backe PH, Lund AM, Bjørås M, Rootwelt T, Rootwelt H, Woldseth B, Eide L. Brodtkorb E, et al. Mol Genet Metab. 2010 Aug;100(4):324-32. doi: 10.1016/j.ymgme.2010.04.017. Epub 2010 May 31. Mol Genet Metab. 2010. PMID: 20570198

2

A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.

Bremer S, Ohlsson A, Brodtkorb E, Rootwelt H, Rootwelt T, Woldseth B, Mørkrid L. Bremer S, et al. Among authors: brodtkorb e. Mol Genet Metab. 2011 Nov;104(3):289-94. doi: 10.1016/j.ymgme.2011.07.012. Epub 2011 Jul 20. Mol Genet Metab. 2011. PMID: 21831683

3

Hereditary tyrosinaemia type I in Norway: incidence and three novel small deletions in the fumarylacetoacetase gene.

Bliksrud YT, Brodtkorb E, Backe PH, Woldseth B, Rootwelt H. Bliksrud YT, et al. Among authors: brodtkorb e. Scand J Clin Lab Invest. 2012 Sep;72(5):369-73. doi: 10.3109/00365513.2012.676210. Epub 2012 May 4. Scand J Clin Lab Invest. 2012. PMID: 22554029

4

Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type.

Backe PH, Ytre-Arne M, Røhr AK, Brodtkorb E, Fowler B, Rootwelt H, Bjørås M, Mørkrid L. Backe PH, et al. Among authors: brodtkorb e. JIMD Rep. 2013;11:79-85. doi: 10.1007/8904_2013_225. Epub 2013 Apr 12. JIMD Rep. 2013. PMID: 23580368 Free PMC article.

5

Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

Rootwelt H, Brodtkorb E, Kvittingen EA. Rootwelt H, et al. Among authors: brodtkorb e. Am J Hum Genet. 1994 Dec;55(6):1122-7. Am J Hum Genet. 1994. PMID: 7977370 Free PMC article.

6

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.

Rootwelt H, Chou J, Gahl WA, Berger R, Coşkun T, Brodtkorb E, Kvittingen EA. Rootwelt H, et al. Among authors: brodtkorb e. Hum Genet. 1994 Jun;93(6):615-9. doi: 10.1007/BF00201558. Hum Genet. 1994. PMID: 8005583

7

Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.

Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IE, Kvittingen EA. Bliksrud YT, et al. Among authors: brodtkorb e. J Mol Med (Berl). 2005 May;83(5):406-10. doi: 10.1007/s00109-005-0648-2. Epub 2005 Mar 10. J Mol Med (Berl). 2005. PMID: 15759101

8

The pre- and post-natal diagnosis of tyrosinemia type I and the detection of the carrier state by assay of fumarylacetoacetase.

Kvittingen EA, Brodtkorb E. Kvittingen EA, et al. Among authors: brodtkorb e. Scand J Clin Lab Invest Suppl. 1986;184:35-40. Scand J Clin Lab Invest Suppl. 1986. PMID: 3473612

9

Risk of Major Congenital Malformations and Exposure to Antiseizure Medication Monotherapy.

Battino D, Tomson T, Bonizzoni E, Craig J, Perucca E, Sabers A, Thomas S, Alvestad S, Perucca P, Vajda F; EURAP Collaborators. Battino D, et al. JAMA Neurol. 2024 Mar 18:e240258. doi: 10.1001/jamaneurol.2024.0258. Online ahead of print. JAMA Neurol. 2024. PMID: 38497990 Free PMC article.

10

Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.

Arntsen V, Jamali A, Sikiric A, Kristensen E, Tangeraas T, Kupliauskiene G, Stefansdottir S, Bindoff LA, Sand T, Brodtkorb E. Arntsen V, et al. Among authors: brodtkorb e. Front Neurol. 2024 Feb 14;15:1355861. doi: 10.3389/fneur.2024.1355861. eCollection 2024. Front Neurol. 2024. PMID: 38419708 Free PMC article.

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