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Journal Abstract Search

147 related items for PubMed ID: 8940876

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  • 3. Leigh syndrome: clinical features and biochemical and DNA abnormalities.
    Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR.
    Ann Neurol; 1996 Mar; 39(3):343-51. PubMed ID: 8602753
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  • 7. Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy.
    Briones P, López MJ, De Meirleir L, Ribes A, Rodés M, Martinez-Costa C, Peris M, Lissens W.
    J Inherit Metab Dis; 1996 Mar; 19(6):795-6. PubMed ID: 8982956
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  • 9. [Leigh encephalopathy (subacute necrotizing encephalomyelopathy)].
    Sakuta R.
    Ryoikibetsu Shokogun Shirizu; 2001 Mar; (36):178-80. PubMed ID: 11596363
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  • 10. A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
    Tulinius M, Darin N, Wiklund LM, Holmberg E, Eriksson JE, Lissens W, De Meirleir L, Holme E.
    Eur J Pediatr; 2005 Feb; 164(2):99-103. PubMed ID: 15558317
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  • 11. Evoked potentials in children with oxidative metabolic defects leading to Leigh syndrome.
    Taylor MJ, Robinson BH.
    Pediatr Neurol; 1992 Feb; 8(1):25-9. PubMed ID: 1313675
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  • 12. [The molecular background of Leigh syndrome].
    Piekutowska-Abramczuk D.
    Neurol Neurochir Pol; 2008 Feb; 42(3):238-50. PubMed ID: 18651330
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  • 13. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.
    Naito E, Ito M, Takeda E, Yokota I, Yoshijima S, Kuroda Y.
    Pediatr Res; 1994 Sep; 36(3):340-6. PubMed ID: 7808831
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  • 14. 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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  • 15. 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 Mar 05; 4(3):115-7. PubMed ID: 10872106
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  • 16. Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.
    Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto Y, Wakamoto H, Koga Y, Tanaka M.
    Biochim Biophys Acta; 2010 Mar 05; 1800(3):313-5. PubMed ID: 19616603
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  • 17. Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.
    Vazquez-Memije ME, Shanske S, Santorelli FM, Kranz-Eble P, Davidson E, DeVivo DC, DiMauro S.
    J Inherit Metab Dis; 1996 Mar 05; 19(1):43-50. PubMed ID: 8830176
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  • 18. Ndufs4 related Leigh syndrome: A case report and review of the literature.
    Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B.
    Mitochondrion; 2016 May 05; 28():73-8. PubMed ID: 27079373
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  • 19. A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
    Lee EH, Ahn MS, Hwang JS, Ryu KH, Kim SJ, Kim SH.
    J Korean Med Sci; 2006 Oct 05; 21(5):800-4. PubMed ID: 17043409
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  • 20. 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 05; 79(3):370-3. PubMed ID: 3103091
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