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Síndrome de Cockayne: informe de cuatro casos y revisión de la literatura
dc.contributor.author | Blandón, Beatriz | spa |
dc.contributor.author | Serrano, Juan C | spa |
dc.date.accessioned | 2020-10-27T14:21:10Z | |
dc.date.available | 2020-10-27T14:21:10Z | |
dc.date.issued | 2007-08-15 | |
dc.identifier.issn | 2382-4603 | |
dc.identifier.issn | 0123-7047 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12749/10348 | |
dc.description.abstract | El síndrome de Cockayne es una enfermedad de origen hereditario, de transmisión autonómica recesiva de prevalencia poco conocida pero muy poco frecuente en Colombia. Su presencia ha sido de difícil reconocimiento pero sus características físicas son muy reconocibles. El diagnóstico temprano orienta al manejo de las patologías asociadas como cataratas, alteraciones en piel y desordenes de desarrollo neurológico. Su reconocimiento ayuda a las familias, médicos y sociedad a entender su apariencia caquéctica además de otras características de su fenotipo, facilita su manejo físico y psicológico previniendo morbimortalidad.[Blandón B, Serrano JC. Síndrome de Cockayne: informe de cuatro casos y revisión de la literatura. MedUNAB 2007; 10:133-136]. | spa |
dc.format.mimetype | application/pdf | spa |
dc.language.iso | spa | spa |
dc.publisher | Universidad Autónoma de Bucaramanga UNAB | |
dc.relation | https://revistas.unab.edu.co/index.php/medunab/article/view/115/102 | |
dc.relation.uri | https://revistas.unab.edu.co/index.php/medunab/article/view/115 | |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/2.5/co/ | |
dc.source | MedUNAB; Vol. 10 Núm. 2 (2007): Especial Oftalmología; 133-136 | |
dc.subject | Ciencias biomédicas | |
dc.subject | Ciencias de la vida | |
dc.subject | Innovaciones en salud | |
dc.subject | Investigaciones | |
dc.title | Síndrome de Cockayne: informe de cuatro casos y revisión de la literatura | spa |
dc.title.translated | Cockayne syndrome: report of four cases and review of the literature | eng |
dc.publisher.faculty | Facultad Ciencias de la Salud | spa |
dc.publisher.program | Pregrado Medicina | spa |
dc.type.driver | info:eu-repo/semantics/article | |
dc.type.local | Artículo | spa |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | |
dc.subject.keywords | Health Sciences | eng |
dc.subject.keywords | Medicine | eng |
dc.subject.keywords | Medical Sciences | eng |
dc.subject.keywords | Biomedical Sciences | eng |
dc.subject.keywords | Life Sciences | eng |
dc.subject.keywords | Innovations in health | eng |
dc.subject.keywords | Research | eng |
dc.subject.keywords | Cockayne syndrome | eng |
dc.subject.keywords | Cataract | eng |
dc.subject.keywords | Enophthalmus | eng |
dc.identifier.instname | instname:Universidad Autónoma de Bucaramanga UNAB | spa |
dc.type.hasversion | Info:eu-repo/semantics/publishedVersion | |
dc.type.hasversion | info:eu-repo/semantics/acceptedVersion | spa |
dc.rights.accessrights | info:eu-repo/semantics/openAccess | spa |
dc.relation.references | Cockayne EA. Dwarfism with retinal atrophy and deaf-ness. Arch Dis Child 1936; 11:1-8 | spa |
dc.relation.references | Lehmann AR. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev 2001; 15:15-23 | spa |
dc.relation.references | Jones N. Smith's recognizable patterns of human malfo-mation. London: Elsevier Saunders, 6 ed, 2006:154-5 | spa |
dc.relation.references | Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. Oxford: Oxford Universitiy Press, 4 ed, 2001:596-600 | spa |
dc.relation.references | Rimoin DL, Connor JM, Emery and Rimoin's principles and practice of medical genetics. London: Churchill Livingstone, 5 ed, 2006:3944-5 | spa |
dc.relation.references | Naupane A. Basneyt S, Manandhar J. Cockayne syndro-me. J Neurosc 2005; 25:140-1 | spa |
dc.relation.references | Pasquier L, Laugel V, Lazaro L, Dolfus H, Edery P, Goldneberg A, et al. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by bioche-mical assays. Arch Dis Child 2006; 91:178-82 | spa |
dc.relation.references | Karam S, Costa J, Jardim L, Pires R, Lehmann A, Giu-gliani R. Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNAsysthesis after UV radiation. Gen Mol Biol 2000; 23:273-5 | spa |
dc.relation.references | Lindenbaum Y, Dickinson DW, Rosembaum PS, Krae-mer KH, Robbins JH, Rapin I. Xeroderma pigmentosum-Cockayne syndrome complex: first neuropathological study and review of eight other cases. Eur J | spa |
dc.subject.lemb | Medicina | spa |
dc.subject.lemb | Ciencias de la salud | spa |
dc.subject.lemb | Ciencias médicas | spa |
dc.identifier.repourl | repourl:https://repository.unab.edu.co | |
dc.description.abstractenglish | Cockayne syndrome is a disease of hereditary origin, of recessive autonomic transmission of little known prevalence but very rare in Colombia. Its presence has been difficult to recognize but its physical characteristics are very recognizable. Early diagnosis guides the management of associated pathologies such as cataracts, skin disorders and neurological development disorders. Its recognition helps families, doctors and society to understand their cachectic appearance in addition to other characteristics of their phenotype, facilitating their physical and psychological management, preventing morbidity and mortality.[Blandón B, Serrano JC. Cockayne syndrome: report of four cases and review of the literature. MedUNAB 2007; 10:133-136]. | eng |
dc.subject.proposal | Síndrome de Cockayne | spa |
dc.subject.proposal | Cataratas | spa |
dc.subject.proposal | Caries dentales | spa |
dc.subject.proposal | Enoftalmus | spa |
dc.type.redcol | http://purl.org/redcol/resource_type/ART |
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