Síndrome de depleción de ADN mitocondrial (Spanish Wikipedia)

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

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9doi.org

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5nih.gov

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2archive.org

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1labor-lademannbogen.de

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archive.org

Moraes CT (1991). «mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases». American Journal of Human Genetics 48 (3): 492-501.
Elpeleg O (2005). «Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion». The American Journal of Human Genetics 76 (6): 1081-1086. PMC 1196446. PMID 15877282. doi:10.1086/430843.

doi.org

dx.doi.org

Verrigni D; Rasmussen M; de Coo R; Amartino H; Bianchi M; Buhas D; Mesli S; Naess K; Born AP; Woldseth B; Prontera P; Batbayli M; Ravn K; Joensen F; Cordelli DM; Santorelli FM; Tulinius M; Darin N; Duno M; Jouvencel P; Burlina A et al. (Oct 2015). «Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients». Journal of Inherited Metabolic Disease 39: 243-52. PMID 26475597. doi:10.1007/s10545-015-9894-9.
Tritschler HJ (1992). «Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA». Neurology 42 (1): 209-217. doi:10.1212/wnl.42.1.209.
Saada A (2004). «Deoxyribonucleotides and disorders of mitochondrial DNA integrity». DNA and Cell Biology 23 (12): 797-806. doi:10.1089/dna.2004.23.797.
Elpeleg O (2005). «Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion». The American Journal of Human Genetics 76 (6): 1081-1086. PMC 1196446. PMID 15877282. doi:10.1086/430843.
El-Hattab; Scaglia (Apr 2013). «Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options». Journal 10 (2): 186-198. PMC 3625391. PMID 23385875. doi:10.1007/s13311-013-0177-6.
Mazziotta MR (1992). «Fatal infantile liver failure associated with mitochondrial DNA depletion». The Journal of Pediatrics Volume 121 (6): 896-901. doi:10.1016/s0022-3476(05)80335-x.
Wang L (2005). «Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes». Molecular Genetics and Metabolism 84 (1): 75-82. PMID 15639197. doi:10.1016/j.ymgme.2004.09.005.
Dimmock DP; Dunn JK; Feigenbaum A; et al (2008). «Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency». Liver Transpl 14: 1480-1485. doi:10.1002/lt.21556.
El-Hattab AW; Li FY; Schmitt E; Zhang S; Craigen WJ; Wong LJ (2010). «MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations». Mol Genet Metab 99: 300-308. doi:10.1016/j.ymgme.2009.10.003.

labor-lademannbogen.de

«Depletionssyndrom, mitochondriales (MDS) - POLG1, DGUOK, TK2, TYMP, MPV17, SUCLA2, SUCLG1, RRM2B, C10orf2 - Humangenetik - Analysen-Spektrum - Labor Lademannbogen». www.labor-lademannbogen.de. 15 de octubre de 2020. Consultado el 12 de julio de 2021.

nih.gov

ncbi.nlm.nih.gov

Verrigni D; Rasmussen M; de Coo R; Amartino H; Bianchi M; Buhas D; Mesli S; Naess K; Born AP; Woldseth B; Prontera P; Batbayli M; Ravn K; Joensen F; Cordelli DM; Santorelli FM; Tulinius M; Darin N; Duno M; Jouvencel P; Burlina A et al. (Oct 2015). «Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients». Journal of Inherited Metabolic Disease 39: 243-52. PMID 26475597. doi:10.1007/s10545-015-9894-9.
Elpeleg O (2005). «Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion». The American Journal of Human Genetics 76 (6): 1081-1086. PMC 1196446. PMID 15877282. doi:10.1086/430843.
El-Hattab; Scaglia (Apr 2013). «Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options». Journal 10 (2): 186-198. PMC 3625391. PMID 23385875. doi:10.1007/s13311-013-0177-6.
Wang L (2005). «Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes». Molecular Genetics and Metabolism 84 (1): 75-82. PMID 15639197. doi:10.1016/j.ymgme.2004.09.005.
Ostergaard E (review). «SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Acuduria». GeneReviews [Internet] (Seattle (WA): University of Washington, Seattle). Parámetro desconocido |veditors= ignorado (ayuda)