Enfermedad de Menkes
| dc.contributor.author | Londoño Suárez, Harold Leonardo | spa |
| dc.date.accessioned | 2020-10-27T14:20:31Z | |
| dc.date.available | 2020-10-27T14:20:31Z | |
| dc.date.issued | 2010-11-08 | |
| dc.identifier.issn | 2382-4603 | |
| dc.identifier.issn | 0123-7047 | |
| dc.identifier.uri | http://hdl.handle.net/20.500.12749/10236 | |
| dc.description.abstract | El objetivo de esta revisión es dar a conocer los principales elementos de la enfermedad de Menkes, un trastorno del metabolismo caracterizado por anomalías en la ruta metabólica del cobre, a través del transportador ATP7A, que se ve reflejado en anomalías variadas por el déficit del cofactor, estas incluyen varias subformas clínicas de la enfermedad como lo son pelo ensortijado, hipotermia y anomalías del tejido conectivo, las cuales solo pueden confirmar la enfermedad por medio de estudios de laboratorio. Una vez hecho el diagnóstico debe tenerse en cuenta que el tratamiento estará encaminado a suplir el cobre en los sitios del metabolismo que lo necesitan omitiendo algunos pasos que se explican en esta revisión; una vez hecha esta exposición de los aspectos claves de la enfermedad, se puede facilitar la sospecha clínica de la enfermedad de Menkes en nuestra población. | 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/1290/1265 | |
| dc.relation.uri | https://revistas.unab.edu.co/index.php/medunab/article/view/1290 | |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/2.5/co/ | |
| dc.source | MedUNAB; Vol. 13 Núm. 3 (2010): Nicotina, Fiebre en niños, Rosácea; 169-172 | |
| dc.title | Enfermedad de Menkes | spa |
| dc.title.translated | Menkes disease | 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 | Menkes kinky hair syndrome | eng |
| dc.subject.keywords | ATP7A | eng |
| dc.subject.keywords | Copper | eng |
| dc.subject.keywords | Metabolism | eng |
| dc.subject.keywords | Inborn errors | 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 | Tümer Z, Møller LB. Menkes ́ disease. Eur J Hum Genet 2010; 18:511-8 | spa |
| dc.relation.references | Møller LB, Mogensen M, Horn N. Molecular diagnosis of Menkes ́ disease: genotype-phenotype correlation Biochimie 2009; 91:1273-7. | spa |
| dc.relation.references | Kodama H, Murata Y. Molecular genetics and pathophy- siology of Menkes ́ disease. Pediatr Int 1999; 41:430-5 | spa |
| dc.subject.lemb | Ciencias de la salud | spa |
| dc.subject.lemb | Medicina | spa |
| dc.subject.lemb | Ciencias medicas | spa |
| dc.identifier.repourl | repourl:https://repository.unab.edu.co | |
| dc.description.abstractenglish | The objective of this review is to present the main elements of Menkes disease, a metabolic disorder characterized by abnormalities in the copper metabolic pathway, through the ATP7A transporter, which is reflected in various abnormalities due to cofactor deficiency. , these include several clinical subforms of the disease such as curly hair, hypothermia and connective tissue abnormalities, which can only confirm the disease through laboratory studies. Once the diagnosis is made, it must be taken into account that the treatment will be aimed at supplying copper in the metabolic sites that need it, omitting some steps that are explained in this review; Once this presentation of the key aspects of the disease has been made, the clinical suspicion of Menkes disease in our population can be facilitated. | eng |
| dc.subject.proposal | Síndrome del pelo ensortijado | spa |
| dc.subject.proposal | Cobre | spa |
| dc.subject.proposal | Errores innatos del metabolismo | spa |
| dc.subject.proposal | Hipocupremia congénita | spa |
| dc.type.redcol | http://purl.org/redcol/resource_type/ART |
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