These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I deficiency. Boor R; Rochels R; Walther B; Reitter B Eur J Pediatr; 1992 Jul; 151(7):519-21. PubMed ID: 1396914 [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. Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene. Petruzzella V; Papa S Gene; 2002 Mar; 286(1):149-54. PubMed ID: 11943471 [TBL] [Abstract][Full Text] [Related]
8. The use of restriction fragment length polymorphisms in prenatal diagnosis of dihydropteridine reductase deficiency. Dahl HH; Wake S; Cotton RG; Danks DM J Med Genet; 1988 Jan; 25(1):25-8. PubMed ID: 2895188 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. [Complex I deficiency due to NDUFS8 gene mutation]. Ito M Nihon Rinsho; 2002 Apr; 60 Suppl 4():441-3. PubMed ID: 12013907 [No Abstract] [Full Text] [Related]
11. Necrotizing encephalopathy and macrocephaly with mitochondrial complex I deficiency. Feillet F; Mousson B; Grignon Y; Leonard JV; Vidailhet M Pediatr Neurol; 1999 Apr; 20(4):305-8. PubMed ID: 10328281 [TBL] [Abstract][Full Text] [Related]
12. Anaesthetic considerations for a 2-month-old infant with suspected complex I respiratory chain deficiency. Kuhnigk H; Wunder C; Roewer N Paediatr Anaesth; 2003 Jan; 13(1):83-5. PubMed ID: 12535047 [No Abstract] [Full Text] [Related]
13. Bilateral infantile cataractogenesis in a patient with deficiency of complex I, a mitochondrial electron transport chain enzyme. Ciulla TA; North K; McCabe O; Anthony DC; Korson MS; Petersen RA J Pediatr Ophthalmol Strabismus; 1995; 32(6):378-82. PubMed ID: 8587022 [TBL] [Abstract][Full Text] [Related]
14. The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients. Triepels R; van den Heuvel L; Loeffen J; Smeets R; Trijbels F; Smeitink J Hum Genet; 1998 Nov; 103(5):557-63. PubMed ID: 9860297 [TBL] [Abstract][Full Text] [Related]
15. Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity. Asano K; Miyamoto I; Matsushita T; Murakami Y; Minoura S; Wagatsuma T; Oshima M Clin Chim Acta; 1988 Apr; 173(3):305-12. PubMed ID: 3383430 [TBL] [Abstract][Full Text] [Related]
16. An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency. Christodoulou J; Petrova-Benedict R; Robinson BH; Jay V; Clarke JT Eur J Pediatr; 1993 May; 152(5):428-32. PubMed ID: 8319712 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mitochondrial complex I is deficient in renal oncocytomas. Simonnet H; Demont J; Pfeiffer K; Guenaneche L; Bouvier R; Brandt U; Schagger H; Godinot C Carcinogenesis; 2003 Sep; 24(9):1461-6. PubMed ID: 12844484 [TBL] [Abstract][Full Text] [Related]
19. An inherited metabolic disorder presenting as ethylene glycol intoxication in a young adult. Pien K; van Vlem B; van Coster R; Dacremont G; Piette M Am J Forensic Med Pathol; 2002 Mar; 23(1):96-100. PubMed ID: 11953504 [TBL] [Abstract][Full Text] [Related]
20. [Electron transfer complex I deficiency]. Goto Y Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):488-90. PubMed ID: 9645116 [No Abstract] [Full Text] [Related] [Next] [New Search]