BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 9453375)

  • 1. Favourable clinical course in an infant with severe deficiency of complex III of the respiratory chain combined with less severe deficiencies of complexes I, II and IV.
    Rubio-Gozalbo ME; Ruitenbeek W; Bentlage HA; Schägger H; Sengers RC; Trijbels JM; ter Laak HJ; Mariman EC; Bakker MM; de Jager J; Smeitink JA
    Eur J Pediatr; 1997 Dec; 156(12):931-4. PubMed ID: 9453375
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The use of chorionic villi in prenatal diagnosis of mitochondriopathies.
    Ruitenbeek W; Sengers RC; Trijbels JM; Janssen AJ; Bakkeren JA
    J Inherit Metab Dis; 1992; 15(3):303-6. PubMed ID: 1328761
    [No Abstract]   [Full Text] [Related]  

  • 3. Mitochondrial myopathies.
    DiMauro S; Bonilla E; Zeviani M; Servidei S; DeVivo DC; Schon EA
    J Inherit Metab Dis; 1987; 10 Suppl 1():113-28. PubMed ID: 2824920
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Multiple defects of the respiratory chain including complex II in a family with myopathy and encephalopathy.
    Desnuelle C; Birch-Machin M; Pellissier JF; Bindoff LA; Ackrell BA; Turnbull DM
    Biochem Biophys Res Commun; 1989 Sep; 163(2):695-700. PubMed ID: 2551272
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Abnormality in the mitochondrial energy-producing system].
    Ozawa T; Tanaka M
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):824-7. PubMed ID: 2855955
    [No Abstract]   [Full Text] [Related]  

  • 6. Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.
    Bindoff LA; Desnuelle C; Birch-Machin MA; Pellissier JF; Serratrice G; Dravet C; Bureau M; Howell N; Turnbull DM
    J Neurol Sci; 1991 Mar; 102(1):17-24. PubMed ID: 1649912
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency.
    Antozzi C; Garavaglia B; Mora M; Rimoldi M; Morandi L; Ursino E; DiDonato S
    Neurology; 1994 Nov; 44(11):2153-8. PubMed ID: 7969976
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Biochemical and molecular aspects of human mitochondrial respiratory chain disorders.
    Cooper JM; Schapira AH; Holt IJ; Toscano A; Harding AE; Morgan-Hughes JA; Clark JB
    Biochem Soc Trans; 1990 Aug; 18(4):517-9. PubMed ID: 2177405
    [No Abstract]   [Full Text] [Related]  

  • 9. Cirrhosis in a child with deficiency of mitochondrial respiratory-chain succinate-cytochrome c-oxidoreductase.
    Sewell AC; Sperl W; Herwig J; Böhles HJ
    J Pediatr; 1997 Jul; 131(1 Pt 1):166-8. PubMed ID: 9255214
    [No Abstract]   [Full Text] [Related]  

  • 10. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.
    von Kleist-Retzow JC; Cormier-Daire V; de Lonlay P; Parfait B; Chretien D; Rustin P; Feingold J; Rötig A; Munnich A
    Am J Hum Genet; 1998 Aug; 63(2):428-35. PubMed ID: 9683589
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts.
    Ruesch S; Krähenbühl S; Kleinle S; Liechti-Gallati S; Schaffner T; Wermuth B; Weber J; Wiesmann UN
    Enzyme Protein; 1996; 49(5-6):321-9. PubMed ID: 9252790
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mitochondrial electron transport chain defect presenting as hypoglycemia.
    Freckmann ML; Thorburn DR; Kirby DM; Kamath KR; Hammond J; Dennett X; Christodoulou J
    J Pediatr; 1997 Mar; 130(3):431-6. PubMed ID: 9063420
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.
    Watmough NJ; Bindoff LA; Birch-Machin MA; Jackson S; Bartlett K; Ragan CI; Poulton J; Gardiner RM; Sherratt HS; Turnbull DM
    J Clin Invest; 1990 Jan; 85(1):177-84. PubMed ID: 2153151
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.
    Kennaway NG; Buist NR; Darley-Usmar VM; Papadimitriou A; Dimauro S; Kelley RI; Capaldi RA; Blank NK; D'Agostino A
    Pediatr Res; 1984 Oct; 18(10):991-9. PubMed ID: 6093035
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Pure mitochondrial myopathy].
    Murakami N; Sakuta R
    Ryoikibetsu Shokogun Shirizu; 2001; (36):186-9. PubMed ID: 11596366
    [No Abstract]   [Full Text] [Related]  

  • 16. Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins.
    Hall RE; Henriksson KG; Lewis SF; Haller RG; Kennaway NG
    J Clin Invest; 1993 Dec; 92(6):2660-6. PubMed ID: 8254022
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Inborn errors of complex II--unusual human mitochondrial diseases.
    Rustin P; Rötig A
    Biochim Biophys Acta; 2002 Jan; 1553(1-2):117-22. PubMed ID: 11803021
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.
    Burgeois M; Goutieres F; Chretien D; Rustin P; Munnich A; Aicardi J
    Brain Dev; 1992 Nov; 14(6):404-8. PubMed ID: 1492653
    [TBL] [Abstract][Full Text] [Related]  

  • 19. An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.
    Birch-Machin MA; Briggs HL; Saborido AA; Bindoff LA; Turnbull DM
    Biochem Med Metab Biol; 1994 Feb; 51(1):35-42. PubMed ID: 8192914
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Partial deficiency of subunits in complex I or IV of patients with mitochondrial myopathies.
    Tanaka M; Nishikimi M; Suzuki H; Ozawa T; Koga Y; Nonaka I
    Biochem Int; 1987 Mar; 14(3):525-30. PubMed ID: 2884999
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.