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Journal Abstract Search

162 related items for PubMed ID: 1327797

  • 21. Mitochondrial cytopathy with lactic acidosis, carnitine deficiency and DeToni-Fanconi-Debré syndrome.
    Kitano A, Nishiyama S, Miike T, Hattori S, Ohtani Y, Matsuda I.
    Brain Dev; 1986; 8(3):289-95. PubMed ID: 3021012
    [Abstract] [Full Text] [Related]

  • 22. Multiple cytochrome deficiency and deteriorated mitochondrial polypeptide composition in fatal infantile mitochondrial myopathy and renal dysfunction.
    Tanaka M, Nishikimi M, Suzuki H, Ozawa T, Okino E, Takahashi H.
    Biochem Biophys Res Commun; 1986 Jun 13; 137(2):911-6. PubMed ID: 3015132
    [Abstract] [Full Text] [Related]

  • 23. Rett syndrome and mitochondrial enzyme deficiencies.
    Coker SB, Melnyk AR.
    J Child Neurol; 1991 Apr 13; 6(2):164-6. PubMed ID: 1646255
    [Abstract] [Full Text] [Related]

  • 24. Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity.
    Sperl W, Ruitenbeek W, Trijbels JM, Sengers RC, Stadhouders AM, Guggenbichler JP.
    Eur J Pediatr; 1988 May 13; 147(4):418-21. PubMed ID: 2840289
    [Abstract] [Full Text] [Related]

  • 25. 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 13; 102(1):17-24. PubMed ID: 1649912
    [Abstract] [Full Text] [Related]

  • 26.
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  • 27. 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 13; 143(4):278-83. PubMed ID: 2985393
    [Abstract] [Full Text] [Related]

  • 28. Defects of oxidative phosphorylation in man.
    Taylor RW, Birch-Machin MA, Lowerson S, Sherratt HS, West IC, Bartlett K, Turnbull DM.
    Biochem Soc Trans; 1993 Aug 13; 21 ( Pt 3)(3):804-7. PubMed ID: 8224514
    [No Abstract] [Full Text] [Related]

  • 29. 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 13; 156(12):931-4. PubMed ID: 9453375
    [Abstract] [Full Text] [Related]

  • 30. Variability in the activity of respiratory chain enzymes in mitochondrial myopathies.
    Koga Y, Nonaka I, Sunohara N, Yamanaka R, Kumagai K.
    Acta Neuropathol; 1988 Dec 13; 76(2):135-41. PubMed ID: 2841822
    [Abstract] [Full Text] [Related]

  • 31. Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease.
    Robinson BH, De Meirleir L, Glerum M, Sherwood G, Becker L.
    J Pediatr; 1987 Feb 13; 110(2):216-22. PubMed ID: 3027293
    [Abstract] [Full Text] [Related]

  • 32. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
    Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE.
    Hum Pathol; 2016 Mar 13; 49():27-32. PubMed ID: 26826406
    [Abstract] [Full Text] [Related]

  • 33. Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria.
    Papadimitriou A, Neustein HB, Dimauro S, Stanton R, Bresolin N.
    Pediatr Res; 1984 Oct 13; 18(10):1023-8. PubMed ID: 6093033
    [Abstract] [Full Text] [Related]

  • 34. Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.
    Bresolin N, Zeviani M, Bonilla E, Miller RH, Leech RW, Shanske S, Nakagawa M, DiMauro S.
    Neurology; 1985 Jun 13; 35(6):802-12. PubMed ID: 2987757
    [Abstract] [Full Text] [Related]

  • 35. Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.
    DiMauro S, Mendell JR, Sahenk Z, Bachman D, Scarpa A, Scofield RM, Reiner C.
    Neurology; 1980 Aug 13; 30(8):795-804. PubMed ID: 6251406
    [Abstract] [Full Text] [Related]

  • 36. 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 15; 163(2):695-700. PubMed ID: 2551272
    [Abstract] [Full Text] [Related]

  • 37. 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 15; 130(3):431-6. PubMed ID: 9063420
    [Abstract] [Full Text] [Related]

  • 38. Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
    Robinson BH, Petrova-Benedict R, Buncic JR, Wallace DC.
    Biochem Med Metab Biol; 1992 Oct 15; 48(2):122-6. PubMed ID: 1329873
    [Abstract] [Full Text] [Related]

  • 39. 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 15; 14(6):404-8. PubMed ID: 1492653
    [Abstract] [Full Text] [Related]

  • 40. Tissue specific defect of complex I of the mitochondrial respiratory chain.
    Watmough NJ, Birch-Machin MA, Bindoff LA, Aynsley-Green A, Simpson K, Ragan CI, Sherratt HS, Turnbull DM.
    Biochem Biophys Res Commun; 1989 Apr 28; 160(2):623-7. PubMed ID: 2719685
    [Abstract] [Full Text] [Related]

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