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Journal Abstract Search

97 related items for PubMed ID: 12768508

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. [Leigh's encephalomyelopathy and its related diseases].
    Narisawa K.
    No To Shinkei; 1985 Nov; 37(11):1108-9. PubMed ID: 3935145
    [No Abstract] [Full Text] [Related]

  • 3. Genetic heterogeneity in Leigh syndrome.
    DiMauro S, De Vivo DC.
    Ann Neurol; 1996 Jul; 40(1):5-7. PubMed ID: 8687192
    [No Abstract] [Full Text] [Related]

  • 4. [Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
    Zhang Y, Sun F, Yang YL, Chang XZ, Qi Y, Qi ZY, Xiao JX, Qin J, Wu XR.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Jun; 9(3):216-9. PubMed ID: 17582259
    [Abstract] [Full Text] [Related]

  • 5. Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
    Di Rocco M, Lamba LD, Minniti G, Caruso U, Naito E.
    Eur J Paediatr Neurol; 2000 Jun; 4(3):115-7. PubMed ID: 10872106
    [Abstract] [Full Text] [Related]

  • 6. Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.
    Wijburg FA, Barth PG, Bindoff LA, Birch-Machin MA, van der Blij JF, Ruitenbeek W, Turnbull DM, Schutgens RB.
    Neuropediatrics; 1992 Jun; 23(3):147-52. PubMed ID: 1641082
    [Abstract] [Full Text] [Related]

  • 7. Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency.
    Kruse B, Hanefeld F, Holzbach U, Wilichowski E, Christen HJ, Merboldt KD, Hänicke W, Frahm J.
    Dev Med Child Neurol; 1994 Sep; 36(9):839-43. PubMed ID: 7926334
    [No Abstract] [Full Text] [Related]

  • 8. LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
    Stowe RC, Sun Q, Elsea SH, Scaglia F.
    Am J Med Genet A; 2018 May; 176(5):1184-1189. PubMed ID: 29681092
    [Abstract] [Full Text] [Related]

  • 9. [Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency].
    Spranger M, Schwab S, Wiebel M, Becker CM.
    Nervenarzt; 1995 Feb; 66(2):144-9. PubMed ID: 7715756
    [Abstract] [Full Text] [Related]

  • 10. Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
    Chabrol B, Mancini J, Benelli C, Gire C, Munnich A.
    J Child Neurol; 1994 Jan; 9(1):52-5. PubMed ID: 8151084
    [Abstract] [Full Text] [Related]

  • 11. Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
    Kretzschmar HA, DeArmond SJ, Koch TK, Patel MS, Newth CJ, Schmidt KA, Packman S.
    Pediatrics; 1987 Mar; 79(3):370-3. PubMed ID: 3103091
    [Abstract] [Full Text] [Related]

  • 12. Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
    Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y.
    J Inherit Metab Dis; 1997 Aug; 20(4):539-48. PubMed ID: 9266390
    [Abstract] [Full Text] [Related]

  • 13. An Intriguing Case of Acute Left-Sided Weakness in a 4-Year-Old Boy.
    Horton L, Henry M, Conway R, Kumar B.
    Clin Pediatr (Phila); 2021 Sep; 60(9-10):432-436. PubMed ID: 34247546
    [No Abstract] [Full Text] [Related]

  • 14. [Leigh syndrome in the adult].
    Roquer J, Herraiz J.
    Arch Neurobiol (Madr); 1986 Sep; 49(3):129-35. PubMed ID: 3017252
    [No Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. [Leigh encephalopathy (subacute necrotizing encephalomyelopathy)].
    Sakuta R.
    Ryoikibetsu Shokogun Shirizu; 2001 Mar 05; (36):178-80. PubMed ID: 11596363
    [No Abstract] [Full Text] [Related]

  • 17. [Mitochondrial dysfunction and brain development disorders].
    Goto Y.
    No To Shinkei; 2001 May 05; 53(5):421-6. PubMed ID: 11424352
    [No Abstract] [Full Text] [Related]

  • 18. [A case of Leigh syndrome associated with respiratory chain complex I deficiency due to mitochondrial gene 13513G>A mutation].
    Wei XQ, Kong QP, Zhang Y, Yang YL, Chang XZ, Qi Y, Qi ZY, Xiao JX, Qin J, Wu XR.
    Zhongguo Dang Dai Er Ke Za Zhi; 2009 May 05; 11(5):333-6. PubMed ID: 19470250
    [Abstract] [Full Text] [Related]

  • 19. Persistent hyperlactacidaemia: about a clinical case.
    Oliveira AR, Valente R, Ramos J, Ventura L.
    BMJ Case Rep; 2013 May 22; 2013():. PubMed ID: 23704442
    [Abstract] [Full Text] [Related]

  • 20. Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
    Brown RM, Head RA, Morris AA, Raiman JA, Walter JH, Whitehouse WP, Brown GK.
    Dev Med Child Neurol; 2006 Sep 22; 48(9):756-60. PubMed ID: 16904023
    [Abstract] [Full Text] [Related]

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