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Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
Okhuijsen-Kroes EJ, Trijbels JM, Sengers RC, Mariman E, van den Heuvel LP, Wendel U, Koch G, Smeitink JA. Okhuijsen-Kroes EJ, et al. Among authors: smeitink ja. Neuropediatrics. 2001 Aug;32(4):183-90. doi: 10.1055/s-2001-17372. Neuropediatrics. 2001. PMID: 11571698 Review.
Mitochondrial dysfunction in a patient with Joubert syndrome.
Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, Smeitink JA. Morava E, et al. Among authors: smeitink ja. Neuropediatrics. 2005 Jun;36(3):214-7. doi: 10.1055/s-2005-865610. Neuropediatrics. 2005. PMID: 15944909
Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.
Morava E, Rodenburg R, Hol F, De Meirleir L, Seneca S, Busch R, van den Heuvel L, Smeitink J. Morava E, et al. Among authors: smeitink j. Am J Med Genet A. 2006 Apr 1;140(7):752-6. doi: 10.1002/ajmg.a.31117. Am J Med Genet A. 2006. PMID: 16477654
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Wortmann S, et al. Among authors: smeitink ja. Mol Genet Metab. 2006 May;88(1):47-52. doi: 10.1016/j.ymgme.2006.01.013. Epub 2006 Mar 9. Mol Genet Metab. 2006. PMID: 16527507
Dietary intervention and oxidative phosphorylation capacity.
Morava E, Rodenburg R, van Essen HZ, De Vries M, Smeitink J. Morava E, et al. Among authors: smeitink j. J Inherit Metab Dis. 2006 Aug;29(4):589. doi: 10.1007/s10545-006-0227-x. Epub 2006 Jun 19. J Inherit Metab Dis. 2006. PMID: 16786255
428 results