Síndrome de Leigh (Spanish Wikipedia)

Analysis of information sources in references of the Wikipedia article "Síndrome de Leigh" in Spanish language version.

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  • Síndrome de Leigh
  • Bourgeron, T.; Rustin, P.; Chretien, D.; Birch-Machin, M.; Bourgeois, M.; Viegas-Pequignot, E.; Munnich, A.; Rotig, A.: Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genet. 11: 144-149, 1995. PubMed ID: 7550341
  • de Lonlay, P.; Valnot, I.; Barrientos, A.; Gorbatyuk, M.; Tzagoloff, A.; Taanman, J.-W.; Benayoun, E.; Chretien, D.; Kadhom, N.; Lombes, A.; Ogier de Baulny, H.; Niaudet, P.; Munnich, A.; Rustin, P.; Rotig, A.: A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nature Genet. 29: 57-60, 2001. PubMed ID: 11528392
  • Thronburn DR, Rahman S.. Mitochondrial DNA-Associated Leigh Syndrome and NARP. GeneReviews. 2003 Disponible en: [1].
  • Morris, A. A. M.; Leonard, J. V.; Brown, G. K.; Bidouki, S. K.; Bindoff, L. A.; Woodward, C. E.; Harding, A. E.; Lake, B. D.; Harding, B. N.; Farrell, M. A.; Bell, J. E.; Mirakhur, M.; Turnbull, D. M.: Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann. Neurol. 40: 25-30, 1996. PubMed ID: 8687187
  • Loeffen, J.; Smeitink, J.; Triepels, R.; Smeets, R.; Schuelke, M.; Sengers, R.; Trijbels, F.; Hamel, B.; Mullaart, R.; van den Heuvel, L.: The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am. J. Hum. Genet. 63: 1598-1608, 1998. PubMed ID: 9837812
  • Smeitink, J.; van den Heuvel, L.: Human mitochondrial complex I in health and disease. Am. J. Hum. Genet. 64: 1505-1510, 1999. PubMed ID: 10330338
  • Rahman, Shamima; Thorburn, David (1993). Adam, Margaret P., ed. GeneReviews®. University of Washington, Seattle. Consultado el 7 de abril de 2021. 

be-md.ncbi.nlm.nih.gov

  • Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol. 1993; 34: 827–34. PubMed ID: 8250532
  • Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol. 1996; 39: 343–51. PubMed ID: 8602753
  • Makino M, Horai S, Goto Y, Nonaka I. Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome. Neuromuscul Disord. 1998; 8: 149–51. PubMed ID: 9631394

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