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5. Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency. Di Rocco M; Lamba LD; Minniti G; Caruso U; Naito E Eur J Paediatr Neurol; 2000; 4(3):115-7. PubMed ID: 10872106 [TBL] [Abstract][Full Text] [Related]
6. Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy. Chabrol B; Mancini J; Benelli C; Gire C; Munnich A J Child Neurol; 1994 Jan; 9(1):52-5. PubMed ID: 8151084 [TBL] [Abstract][Full Text] [Related]
7. [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]
8. MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect. Medina L; Chi TL; DeVivo DC; Hilal SK AJR Am J Roentgenol; 1990 Jun; 154(6):1269-74. PubMed ID: 2159689 [TBL] [Abstract][Full Text] [Related]
9. Proton spectroscopy in patients with Leigh's disease and mitochondrial enzyme deficiency. Kruse B; Hanefeld F; Holzbach U; Wilichowski E; Christen HJ; Merboldt KD; Hänicke W; Frahm J Dev Med Child Neurol; 1994 Sep; 36(9):839-43. PubMed ID: 7926334 [No Abstract] [Full Text] [Related]
10. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Rahman S; Blok RB; Dahl HH; Danks DM; Kirby DM; Chow CW; Christodoulou J; Thorburn DR Ann Neurol; 1996 Mar; 39(3):343-51. PubMed ID: 8602753 [TBL] [Abstract][Full Text] [Related]
11. [Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]. Siemes H; Goebel HH; Sengers RC; Ruitenbeek W; Trijbels JM Monatsschr Kinderheilkd; 1987 Dec; 135(12):821-6. PubMed ID: 3125426 [TBL] [Abstract][Full Text] [Related]
12. [Asymptomatic carnitine depletion on ketogenic diet in patients with pharmacoresistant epilepsies]. Liebhaber G; Pascher B; Gempel K; Baumeister FA Klin Padiatr; 2006; 218(5):260-3. PubMed ID: 16947093 [TBL] [Abstract][Full Text] [Related]
13. 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]
15. Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Barnerias C; Saudubray JM; Touati G; De Lonlay P; Dulac O; Ponsot G; Marsac C; Brivet M; Desguerre I Dev Med Child Neurol; 2010 Feb; 52(2):e1-9. PubMed ID: 20002125 [TBL] [Abstract][Full Text] [Related]
16. [Complex I and IV deficits in the mitochondrial respiratory chain in two siblings with type I glutaric aciduria]. Martínez Bermejo A; Pascual Castroviejo I; Merinero B; Campos Y; López Martín V; Arcas J; Gutiérrez Molina M; Arenas J Neurologia; 1994; 9(7):303-6. PubMed ID: 7946428 [TBL] [Abstract][Full Text] [Related]
17. Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects. Kang HC; Lee YM; Kim HD; Lee JS; Slama A Epilepsia; 2007 Jan; 48(1):82-8. PubMed ID: 17241212 [TBL] [Abstract][Full Text] [Related]
18. [Adult Leigh syndrome. A rare differential diagnosis of central respiratory insufficiency]. Spranger M; Schwab S; Wiebel M; Becker CM Nervenarzt; 1995 Feb; 66(2):144-9. PubMed ID: 7715756 [TBL] [Abstract][Full Text] [Related]