196 related articles for article (PubMed ID: 8498846)
21. Systemic deficiency of the first component of the pyruvate dehydrogenase complex.
Kerr DS; Ho L; Berlin CM; Lanoue KF; Towfighi J; Hoppel CL; Lusk MM; Gondek CM; Patel MS
Pediatr Res; 1987 Sep; 22(3):312-8. PubMed ID: 3116495
[TBL] [Abstract][Full Text] [Related]
22. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
Kirby DM; Boneh A; Chow CW; Ohtake A; Ryan MT; Thyagarajan D; Thorburn DR
Ann Neurol; 2003 Oct; 54(4):473-8. PubMed ID: 14520659
[TBL] [Abstract][Full Text] [Related]
23. [An adult case of Leigh's subacute necrotizing encephalomyelopathy].
Reynaud P; Loiseau H; Coquet M; Vital C; Loiseau P
Rev Neurol (Paris); 1988; 144(4):259-65. PubMed ID: 3047833
[TBL] [Abstract][Full Text] [Related]
24. [Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
Zhang Y; Sun F; Yang YL; Chang XZ; Qi Y; Qi ZY; Xiao JX; Qin J; Wu XR
Zhongguo Dang Dai Er Ke Za Zhi; 2007 Jun; 9(3):216-9. PubMed ID: 17582259
[TBL] [Abstract][Full Text] [Related]
25. Deficiency of pyruvate dehydrogenase complex in tissues of an eight month old infant.
Hansikova H; Zeman J; Klement P; Technikova-Dobrova Z; Houstkova H; Houstek J; Papa S
Biochem Mol Biol Int; 1993 Dec; 31(6):1157-66. PubMed ID: 8193600
[TBL] [Abstract][Full Text] [Related]
26. Pyruvate carboxylase deficiency: an alleged biochemical cause of Leigh's disease.
Murphy JV; Isohashi F; Weinberg MB; Utter MF
Pediatrics; 1981 Sep; 68(3):401-4. PubMed ID: 6792586
[No Abstract] [Full Text] [Related]
27. Infantile form of subacute necrotizing encephalomyelopathy (Leigh's disease).
Kasantikul V; Shuangshoti S
J Med Assoc Thai; 1987 Oct; 70(10):596-603. PubMed ID: 2447218
[No Abstract] [Full Text] [Related]
28. [Subacute necrotizing encephalopathy, Leigh's disease. Apropos of a case].
Delisle MB; Netter JC; Peyrille F; Bouissou H
Ann Pathol; 1985; 5(4-5):313-7. PubMed ID: 3833250
[TBL] [Abstract][Full Text] [Related]
29. Isolated capillary proliferation in Leigh's syndrome.
Matthews PM; Nagy Z; Brown GK; Land J; Squier MV
Clin Neuropathol; 1994; 13(3):139-41. PubMed ID: 7522140
[TBL] [Abstract][Full Text] [Related]
30. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
Rojo A; Campos Y; Sánchez JM; Bonaventura I; Aguilar M; García A; González L; Rey MJ; Arenas J; Olivé M; Ferrer I
Acta Neuropathol; 2006 Jun; 111(6):610-6. PubMed ID: 16525806
[TBL] [Abstract][Full Text] [Related]
31. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
Budde SM; van den Heuvel LP; Janssen AJ; Smeets RJ; Buskens CA; DeMeirleir L; Van Coster R; Baethmann M; Voit T; Trijbels JM; Smeitink JA
Biochem Biophys Res Commun; 2000 Aug; 275(1):63-8. PubMed ID: 10944442
[TBL] [Abstract][Full Text] [Related]
32. Normal activities of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Leigh's syndrome.
Tsuchiyama A; Oyanagi K; Sogawa H; Nakao T; Ogawa K; Fujita S
Tohoku J Exp Med; 1983 Jan; 139(1):67-72. PubMed ID: 6836560
[TBL] [Abstract][Full Text] [Related]
33. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
Chun K; MacKay N; Petrova-Benedict R; Robinson BH
Hum Mol Genet; 1993 Apr; 2(4):449-54. PubMed ID: 8504306
[TBL] [Abstract][Full Text] [Related]
34. Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.
Ito M; Huq AH; Naito E; Saijo T; Takeda E; Kuroda Y
J Inherit Metab Dis; 1992; 15(6):848-56. PubMed ID: 1338114
[TBL] [Abstract][Full Text] [Related]
35. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
36. A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts.
Kerr DS; Berry SA; Lusk MM; Ho L; Patel MS
Pediatr Res; 1988 Jul; 24(1):95-100. PubMed ID: 3137520
[TBL] [Abstract][Full Text] [Related]
37. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
Yang YL; Sun F; Zhang Y; Qian N; Yuan Y; Wang ZX; Qi Y; Xiao JX; Wang XY; Qi ZY; Zhang YH; Jiang YW; Bao XH; Qin J; Wu XR
Chin Med J (Engl); 2006 Mar; 119(5):373-7. PubMed ID: 16542579
[TBL] [Abstract][Full Text] [Related]
38. Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation.
Miranda AF; Ishii S; DiMauro S; Shay JW
Neurology; 1989 May; 39(5):697-702. PubMed ID: 2540452
[TBL] [Abstract][Full Text] [Related]
39. Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.
Makino M; Horai S; Goto Y; Nonaka I
Neuromuscul Disord; 1998 May; 8(3-4):149-51. PubMed ID: 9631394
[TBL] [Abstract][Full Text] [Related]
40. Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy.
Arts WF; Scholte HR; Loonen MC; Przyrembel H; Fernandes J; Trijbels JM; Luyt-Houwen IE
J Neurol Sci; 1987 Jan; 77(1):103-15. PubMed ID: 3027266
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
