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Secondary metabolic effects in complex I deficiency.
Esteitie N, Hinttala R, Wibom R, Nilsson H, Hance N, Naess K, Teär-Fahnehjelm K, von Döbeln U, Majamaa K, Larsson NG. Esteitie N, et al. Among authors: von dobeln u. Ann Neurol. 2005 Oct;58(4):544-52. doi: 10.1002/ana.20570. Ann Neurol. 2005. PMID: 16044424
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.
Naess K, Barbaro M, Bruhn H, Wibom R, Nennesmo I, von Döbeln U, Larsson NG, Nemeth A, Lesko N. Naess K, et al. Among authors: von dobeln u. JIMD Rep. 2012;4:67-73. doi: 10.1007/8904_2011_73. Epub 2011 Oct 20. JIMD Rep. 2012. PMID: 23430898 Free PMC article.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A. Freyer C, et al. Among authors: von dobeln u. J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17. J Med Genet. 2015. PMID: 26084283 Free PMC article.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
Stranneheim H, Engvall M, Naess K, Lesko N, Larsson P, Dahlberg M, Andeer R, Wredenberg A, Freyer C, Barbaro M, Bruhn H, Emahazion T, Magnusson M, Wibom R, Zetterström RH, Wirta V, von Döbeln U, Wedell A. Stranneheim H, et al. Among authors: von dobeln u. BMC Genomics. 2014 Dec 11;15(1):1090. doi: 10.1186/1471-2164-15-1090. BMC Genomics. 2014. PMID: 25495354 Free PMC article.
107 results