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Page 1
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
Koene S, Rodenburg RJ, van der Knaap MS, Willemsen MA, Sperl W, Laugel V, Ostergaard E, Tarnopolsky M, Martin MA, Nesbitt V, Fletcher J, Edvardson S, Procaccio V, Slama A, van den Heuvel LP, Smeitink JA. Koene S, et al. Among authors: ostergaard e. J Inherit Metab Dis. 2012 Sep;35(5):737-47. doi: 10.1007/s10545-012-9492-z. Epub 2012 May 30. J Inherit Metab Dis. 2012. PMID: 22644603 Free PMC article. Review.
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. 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
An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.
Hinttala R, Sasarman F, Nishimura T, Antonicka H, Brunel-Guitton C, Schwartzentruber J, Fahiminiya S, Majewski J, Faubert D, Ostergaard E, Smeitink JA, Shoubridge EA. Hinttala R, et al. Among authors: ostergaard e. Hum Mol Genet. 2015 Jul 15;24(14):4103-13. doi: 10.1093/hmg/ddv149. Epub 2015 Apr 24. Hum Mol Genet. 2015. PMID: 25911677 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: ostergaard e. 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
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Repp BM, et al. Among authors: ostergaard e. Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. Orphanet J Rare Dis. 2018. PMID: 30025539 Free PMC article.
201 results