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5. 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; 110(2):216-22. PubMed ID: 3027293 [TBL] [Abstract][Full Text] [Related]
6. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. Hoppel CL; Kerr DS; Dahms B; Roessmann U J Clin Invest; 1987 Jul; 80(1):71-7. PubMed ID: 3110216 [TBL] [Abstract][Full Text] [Related]
7. Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts. Procaccio V; Mousson B; Beugnot R; Duborjal H; Feillet F; Putet G; Pignot-Paintrand I; Lombès A; De Coo R; Smeets H; Lunardi J; Issartel JP J Clin Invest; 1999 Jul; 104(1):83-92. PubMed ID: 10393702 [TBL] [Abstract][Full Text] [Related]
8. Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain. Pitkanen S; Merante F; McLeod DR; Applegarth D; Tong T; Robinson BH Pediatr Res; 1996 Mar; 39(3):513-21. PubMed ID: 8929874 [TBL] [Abstract][Full Text] [Related]
9. Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne. Houshmand M; Larsson NG; Oldfors A; Tulinius M; Holme E Hum Genet; 1996 Mar; 97(3):269-73. PubMed ID: 8786060 [TBL] [Abstract][Full Text] [Related]
10. Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome. Kobayashi M; Morishita H; Sugiyama N; Yokochi K; Nakano M; Wada Y; Hotta Y; Terauchi A; Nonaka I J Pediatr; 1987 Feb; 110(2):223-7. PubMed ID: 3100753 [TBL] [Abstract][Full Text] [Related]
11. Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts. Chretien D; Bénit P; Chol M; Lebon S; Rötig A; Munnich A; Rustin P Biochem Biophys Res Commun; 2003 Jan; 301(1):222-4. PubMed ID: 12535666 [TBL] [Abstract][Full Text] [Related]
12. Diagnosis of mitochondrial energy metabolism defects in tissue culture. Induction of MnSOD and bcl-2 in mitochondria from patients with complex I (NADH-CoQ reductase) deficiency. Robinson BH; Luo XP; Pitkänen S; Bratinova S; Bourgeois J; Lehotay DC; Raha S Biofactors; 1998; 7(3):229-30. PubMed ID: 9568254 [No Abstract] [Full Text] [Related]
13. Lactate oxidation for the detection of mitochondrial dysfunction in human skin fibroblasts. Ofenstein JP; Kiechle FL; Dandurand DM; Belknap WM; Moore KH; Holmes RD Anal Biochem; 1993 May; 210(2):332-6. PubMed ID: 8512068 [TBL] [Abstract][Full Text] [Related]
14. Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. James AM; Wei YH; Pang CY; Murphy MP Biochem J; 1996 Sep; 318 ( Pt 2)(Pt 2):401-7. PubMed ID: 8809026 [TBL] [Abstract][Full Text] [Related]
15. Menadione partially restores NADH-oxidation and ATP-synthesis in complex I deficient fibroblasts. Wijburg FA; Feller N; de Groot CJ; Wanders RJ Biochem Int; 1990 Oct; 22(2):303-9. PubMed ID: 2128595 [TBL] [Abstract][Full Text] [Related]
16. Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders. Holmes RD; Moore KH; Ofenstein JP; Tsatsos P; Kiechle FL J Inherit Metab Dis; 1993; 16(2):368-80. PubMed ID: 8105143 [TBL] [Abstract][Full Text] [Related]
17. Expression of respiratory chain deficiencies in human cultured cells. Bourgeron T; Chretien D; Amati P; Rötig A; Munnich A; Rustin P Neuromuscul Disord; 1993; 3(5-6):605-8. PubMed ID: 8186720 [TBL] [Abstract][Full Text] [Related]
20. [Delayed manifestation of mitochondrial myopathy--complex I and IV deficiency of the mitochondrial respiratory chain with progressive paresis]. Beyenburg S; von Wersebe O; Zierz S Nervenarzt; 1991 Aug; 62(8):506-11. PubMed ID: 1658669 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]