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3. Cytochrome c oxidase deficiency in Leigh syndrome. DiMauro S; Servidei S; Zeviani M; DiRocco M; DeVivo DC; DiDonato S; Uziel G; Berry K; Hoganson G; Johnsen SD Ann Neurol; 1987 Oct; 22(4):498-506. PubMed ID: 2829705 [TBL] [Abstract][Full Text] [Related]
4. Cytochrome C oxidase deficiency in two siblings with Leigh encephalomyelopathy. Miyabayashi S; Narisawa K; Iinuma K; Tada K; Sakai K; Kobayashi K; Kobayashi Y; Morinaga S Brain Dev; 1984; 6(4):362-72. PubMed ID: 6093613 [TBL] [Abstract][Full Text] [Related]
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10. Cytochrome c oxidase deficiency in three patients with Leigh's disease. Di Rocco M; Veneselli E; Ciccone MO; Taccone A; Stroppiano M; Cottafava F J Inherit Metab Dis; 1988; 11 Suppl 2():189-92. PubMed ID: 2846961 [No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathy. Koga Y; Nonaka I; Nakao M; Yoshino M; Tanaka M; Ozawa T; Nakase H; DiMauro S J Neurol Sci; 1990 Jan; 95(1):63-76. PubMed ID: 2159985 [TBL] [Abstract][Full Text] [Related]
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15. 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]
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. Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. Coenen MJ; van den Heuvel LP; Ugalde C; Ten Brinke M; Nijtmans LG; Trijbels FJ; Beblo S; Maier EM; Muntau AC; Smeitink JA Ann Neurol; 2004 Oct; 56(4):560-4. PubMed ID: 15455402 [TBL] [Abstract][Full Text] [Related]
18. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient leigh syndrome and hypertrichosis. Williams SL; Taanman JW; Hansíková H; Houst'ková H; Chowdhury S; Zeman J; Houstek J Mol Genet Metab; 2001 Aug; 73(4):340-3. PubMed ID: 11509016 [TBL] [Abstract][Full Text] [Related]
19. SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency. Moslemi AR; Tulinius M; Darin N; Aman P; Holme E; Oldfors A Neurology; 2003 Oct; 61(7):991-3. PubMed ID: 14557577 [TBL] [Abstract][Full Text] [Related]
20. Cytochrome c oxidase-associated Leigh syndrome: phenotypic features and pathogenetic speculations. Van Coster R; Lombres A; De Vivo DC; Chi TL; Dodson WE; Rothman S; Orrechio EJ; Grover W; Berry GT; Schwartz JF J Neurol Sci; 1991 Jul; 104(1):97-111. PubMed ID: 1655984 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]