BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

302 related articles for article (PubMed ID: 2909916)

  • 1. Deficiency of pyruvate dehydrogenase complex (PDHC) in Leigh's disease fibroblasts: an abnormality in lipoamide dehydrogenase affecting PDHC activation.
    Hinman LM; Sheu KF; Baker AC; Kim YT; Blass JP
    Neurology; 1989 Jan; 39(1):70-5. PubMed ID: 2909916
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biochemical study in 28 children with lactic acidosis, in relation to Leigh's encephalomyelopathy.
    Miyabayashi S; Ito T; Narisawa K; Iinuma K; Tada K
    Eur J Pediatr; 1985 Mar; 143(4):278-83. PubMed ID: 2985393
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Pyruvate dehydrogenase phosphate (PDHb) phosphatase activity in fibroblasts from Leigh's disease.
    Sheu KF; Blass JP
    Neurology; 1984 Sep; 34(9):1187-91. PubMed ID: 6087208
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex].
    Siemes H; Goebel HH; Sengers RC; Ruitenbeek W; Trijbels JM
    Monatsschr Kinderheilkd; 1987 Dec; 135(12):821-6. PubMed ID: 3125426
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.
    Arts WF; Scholte HR; Loonen MC; Przyrembel H; Fernandes J; Trijbels JM; Luyt-Houwen IE
    J Neurol Sci; 1987 Jan; 77(1):103-15. PubMed ID: 3027266
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular genetic characterization of an X-linked form of Leigh's syndrome.
    Matthews PM; Marchington DR; Squier M; Land J; Brown RM; Brown GK
    Ann Neurol; 1993 Jun; 33(6):652-5. PubMed ID: 8498846
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy.
    Marsac C; Stansbie D; Bonne G; Cousin J; Jehenson P; Benelli C; Leroux JP; Lindsay G
    J Pediatr; 1993 Dec; 123(6):915-20. PubMed ID: 8229524
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Systems analysis of energy metabolism elucidates the affected respiratory chain complex in Leigh's syndrome.
    Vo TD; Paul Lee WN; Palsson BO
    Mol Genet Metab; 2007 May; 91(1):15-22. PubMed ID: 17336115
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE).
    Kustermann-Kuhn B; Harzer K; Schröder R; Permanetter W; Peiffer J
    Hum Genet; 1984; 68(1):51-3. PubMed ID: 6437963
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Leigh's disease: a cause of arterial hypertension.
    Pamphlett R; Harper C
    Med J Aust; 1985 Sep; 143(7):306-8. PubMed ID: 4046920
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy.
    Hansen TL; Christensen E; Brandt NJ
    Acta Paediatr Scand; 1982 Mar; 71(2):263-7. PubMed ID: 6897146
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Systemic deficiency of the first component of the pyruvate dehydrogenase complex.
    Kerr DS; Ho L; Berlin CM; Lanoue KF; Towfighi J; Hoppel CL; Lusk MM; Gondek CM; Patel MS
    Pediatr Res; 1987 Sep; 22(3):312-8. PubMed ID: 3116495
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
    Fouque F; Brivet M; Boutron A; Vequaud C; Marsac C; Zabot MT; Benelli C
    Pediatr Res; 2003 May; 53(5):793-9. PubMed ID: 12621116
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lipoamide dehydrogenase regulation in rat brain.
    Ngo TT; Barbeau A
    Can J Neurol Sci; 1978 Feb; 5(1):105-9. PubMed ID: 647484
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pyruvate carboxylase activity in subacute necrotizing encephalopathy (Leigh's disease).
    Sander J; Packman S; Berg BO; Hutchison HT; Caswell N
    Neurology; 1984 Apr; 34(4):515-6. PubMed ID: 6538306
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy.
    De Meirleir L; Lissens W; Benelli C; Ponsot G; Desguerre I; Marsac C; Rodriguez D; Saudubray JM; Poggi F; Liebaers I
    Pediatr Res; 1994 Dec; 36(6):707-12. PubMed ID: 7898978
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts.
    Schwab MA; Kölker S; van den Heuvel LP; Sauer S; Wolf NI; Rating D; Hoffmann GF; Smeitink JA; Okun JG
    Clin Chem; 2005 Jan; 51(1):151-60. PubMed ID: 15550478
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Diagnostic criteria in classical infantile subacute necrotizing encephalomyelopathy (Leigh's disease)].
    Sperl W; Rumpl E; Rittinger F; Pillwein K; Wick H; Henn R; Plöchl E
    Klin Padiatr; 1989; 201(2):86-92. PubMed ID: 2716238
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.
    Miranda AF; Ishii S; DiMauro S; Shay JW
    Neurology; 1989 May; 39(5):697-702. PubMed ID: 2540452
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Relationship between activation state of pyruvate dehydrogenase complex and rate of pyruvate oxidation in isolated cerebro-cortical mitochondria: effects of potassium ions and adenine nucleotides.
    Lai JC; Sheu KF
    J Neurochem; 1985 Dec; 45(6):1861-8. PubMed ID: 3840524
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.