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2. 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]
3. Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase. Pitkanen S; Robinson BH J Clin Invest; 1996 Jul; 98(2):345-51. PubMed ID: 8755643 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia. Robinson BH; McKay N; Goodyer P; Lancaster G Am J Hum Genet; 1985 Sep; 37(5):938-46. PubMed ID: 4050791 [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. Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia. Robinson BH; Ward J; Goodyer P; Baudet A J Clin Invest; 1986 May; 77(5):1422-7. PubMed ID: 3009544 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Diagnosis of complex I deficiency in patients with lactic acidemia using skin fibroblast cultures. Pitkänen S; Raha S; Robinson BH Biochem Mol Med; 1996 Dec; 59(2):134-7. PubMed ID: 8986635 [TBL] [Abstract][Full Text] [Related]
11. Fatal neonatal lactic acidosis with respiratory insufficiency due to complex I and IV deficiency. von Döbeln U; Wibom R; Ahlman H; Nennesmo I; Nyctelius H; Hultman E; Hagenfeldt L Acta Paediatr; 1993 Dec; 82(12):1079-81. PubMed ID: 8155932 [TBL] [Abstract][Full Text] [Related]
12. NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with Leigh syndrome: implications for the diagnosis of inborn errors of the respiratory chain. Wijburg FA; Wanders RJ; van Lie Peters EM; Vos GD; Loggers HG; Bolhuis PA; Herzberg NH; Ruitenbeek W; van Wilsem A; ten Houten R J Inherit Metab Dis; 1991; 14(3):297-300. PubMed ID: 1770777 [No Abstract] [Full Text] [Related]
13. Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome. Fujii T; Ito M; Okuno T; Mutoh K; Nishikomori R; Mikawa H J Pediatr; 1990 Jan; 116(1):84-7. PubMed ID: 2104930 [TBL] [Abstract][Full Text] [Related]
14. Clinical and molecular findings in children with complex I deficiency. Bugiani M; Invernizzi F; Alberio S; Briem E; Lamantea E; Carrara F; Moroni I; Farina L; Spada M; Donati MA; Uziel G; Zeviani M Biochim Biophys Acta; 2004 Dec; 1659(2-3):136-47. PubMed ID: 15576045 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease. Glerum M; Robinson BH; Spratt C; Wilson J; Patrick D Am J Hum Genet; 1987 Oct; 41(4):584-93. PubMed ID: 2821802 [TBL] [Abstract][Full Text] [Related]
17. Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency. Luo X; Pitkänen S; Kassovska-Bratinova S; Robinson BH; Lehotay DC J Clin Invest; 1997 Jun; 99(12):2877-82. PubMed ID: 9185510 [TBL] [Abstract][Full Text] [Related]
18. 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; 19(1):43-50. PubMed ID: 8830176 [TBL] [Abstract][Full Text] [Related]
19. Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies. Nagai T; Tuchiya Y; Taguchi Y; Sakuta R; Ichiki T; Nonaka I Pediatr Neurol; 1993; 9(2):151-4. PubMed ID: 8388688 [TBL] [Abstract][Full Text] [Related]
20. Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis. Moreadith RW; Batshaw ML; Ohnishi T; Kerr D; Knox B; Jackson D; Hruban R; Olson J; Reynafarje B; Lehninger AL J Clin Invest; 1984 Sep; 74(3):685-97. PubMed ID: 6432847 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]