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Journal Abstract Search

187 related items for PubMed ID: 22241703

  • 1. Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.
    Henriques M, Diogo L, Garcia P, Pratas J, Simões M, Grazina M.
    J Child Neurol; 2012 Aug; 27(8):1059-61. PubMed ID: 22241703
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  • 2. Unusual findings in Leigh syndrome caused by T8993C mutation.
    Yiş U, Seneca S, Dirik E, Kurul SH, Ozer E, Cakmakçi H, De Meirleir L.
    Eur J Paediatr Neurol; 2009 Nov; 13(6):550-2. PubMed ID: 19046652
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  • 5. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
    Yang YL, Sun F, Zhang Y, Qian N, Yuan Y, Wang ZX, Qi Y, Xiao JX, Wang XY, Qi ZY, Zhang YH, Jiang YW, Bao XH, Qin J, Wu XR.
    Chin Med J (Engl); 2006 Mar 05; 119(5):373-7. PubMed ID: 16542579
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  • 7. [Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family].
    Gutiérrez A, Saldaña-Martínez A, García-Ramírez R, Rayo-Mares D, Carreras M, López-Pérez MJ, Ruiz-Pesini E, Montoya J, Montiel-Sosa JF.
    Rev Neurol; 2006 Mar 05; 49(5):248-50. PubMed ID: 19714555
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  • 12. Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.
    Gao J, Gao F, Hong F, Yu H, Jiang P.
    Am J Emerg Med; 2015 Mar 05; 33(3):474.e1-3. PubMed ID: 25227973
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  • 13. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
    Makino M, Horai S, Goto Y, Nonaka I.
    J Hum Genet; 2000 Mar 05; 45(2):69-75. PubMed ID: 10721666
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  • 14. Rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation.
    Iida Y, Fujii K, Mizuochi H, Suwabe S, Wakui A, Uchikawa H, Shimojo N.
    J Neurol Sci; 2016 Apr 15; 363():77-9. PubMed ID: 27000225
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  • 15. Hyperammonemic coma in an ornithine transcarbamylase mutation carrier following antepartum corticosteroids.
    Lipskind S, Loanzon S, Simi E, Ouyang DW.
    J Perinatol; 2011 Oct 15; 31(10):682-4. PubMed ID: 21956151
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  • 16. Cardiac mitochondrial dysfunction in Leigh syndrome.
    Marin-Garcia J, Ananthakrishnan R, Korson M, Goldenthal MJ, Perez-Atayde A.
    Pediatr Cardiol; 1996 Oct 15; 17(6):387-9. PubMed ID: 8781089
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  • 17. Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine.
    Cox R, Platt J, Chen LC, Tang S, Wong LJ, Enns GM.
    Mitochondrion; 2012 Mar 15; 12(2):258-61. PubMed ID: 21982779
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  • 18. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
    Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR.
    Ann Neurol; 2000 Jul 15; 48(1):102-4. PubMed ID: 10894222
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  • 19. Ornithine transcarbamylase deficiency and pancreatitis.
    Anadiotis G, Ierardi-Curto L, Kaplan PB, Berry GT.
    J Pediatr; 2001 Jan 15; 138(1):123-4. PubMed ID: 11148526
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  • 20. [Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency].
    Mo WQ, Liu L, Chen YY, Cheng J, Li XZ, Zhou ZH, Mao XJ, Zhang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun 15; 28(3):328-31. PubMed ID: 21644234
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