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Page 1
Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.
Pedersen CB, Zolkipli Z, Vang S, Palmfeldt J, Kjeldsen M, Stenbroen V, Schmidt SP, Wanders RJ, Ruiter JP, Wibrand F, Tein I, Gregersen N. Pedersen CB, et al. Among authors: wibrand f. J Inherit Metab Dis. 2010 Jun;33(3):211-22. doi: 10.1007/s10545-010-9086-6. Epub 2010 May 5. J Inherit Metab Dis. 2010. PMID: 20443061
Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.
Borch L, Lund AM, Wibrand F, Christensen E, Søndergaard C, Gahrn B, Hougaard DM, Andresen BS, Gregersen N, Olsen RK. Borch L, et al. Among authors: wibrand f. JIMD Rep. 2012;3:11-5. doi: 10.1007/8904_2011_35. Epub 2011 Sep 22. JIMD Rep. 2012. PMID: 23430868 Free PMC article.
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.
Lund AM, Wibrand F, Skogstrand K, Bækvad-Hansen M, Gregersen N, Andresen BS, Hougaard DM, Dunø M, Olsen RKJ. Lund AM, et al. Among authors: wibrand f. Int J Neonatal Screen. 2021 Jul 26;7(3):50. doi: 10.3390/ijns7030050. Int J Neonatal Screen. 2021. PMID: 34449524 Free PMC article.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
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, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E. Carrozzo R, et al. Among authors: wibrand f. J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16. J Inherit Metab Dis. 2016. PMID: 26475597
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Ostergaard E, Moller LB, Kalkanoglu-Sivri HS, Dursun A, Kibaek M, Thelle T, Christensen E, Duno M, Wibrand F. Ostergaard E, et al. Among authors: wibrand f. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S235-9. doi: 10.1007/s10545-009-1179-8. Epub 2009 Jun 11. J Inherit Metab Dis. 2009. PMID: 19517265
74 results