Enfermedad de Pompe : descripción de las características clínicas y de laboratorio de una familia colombiana
Pompe disease : clinical presentation in a colombian family
| dc.creator | Ortíz Giraldo, Blair | |
| dc.creator | Cornejo Ochoa, José William | |
| dc.creator | Arango, Daniel | |
| dc.date | 2021-07-03T02:10:12Z | |
| dc.date | 2021-07-03T02:10:12Z | |
| dc.date | 2011 | |
| dc.date.accessioned | 2023-08-28T20:13:54Z | |
| dc.date.available | 2023-08-28T20:13:54Z | |
| dc.identifier | 0120-8748 | |
| dc.identifier | http://hdl.handle.net/10495/20608 | |
| dc.identifier | 2422-4022 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8475856 | |
| dc.description | RESUMEN: La enfermedad de Pompe (EP) es debida a la deficiencia de la enzima lisosomal maltasa ácida o alfa glucosidasa ácida (AGA) y se manifiesta clínicamente como una miopatía. La cantidad y calidad de la enzima determinan la variedad de presentación. A continuación se presentan las formas de debut, características clínicas, hallazgos de laboratorio y evolución de dos casos evaluados con EP. | |
| dc.description | ABSTRACT: Pompe disease (PD) is due to lisosomal enzyme acid Maltase or acid alpha-glucosidase deficit and clinically lies expressed such as a myopathy. The amount and quality of enzyme establish the variety of presentation. In the following report we show the way of debut, clinical characteristics, lab findings and the follow up of two cases evaluated with PD and we made a review of the literatur | |
| dc.description | COL0058784 | |
| dc.format | 6 | |
| dc.format | application/pdf | |
| dc.format | application/pdf | |
| dc.language | spa | |
| dc.publisher | Asociación Colombiana de Neurología | |
| dc.publisher | Grupo de Investigación Clínica en Enfermedades del Niño y del Adolescente - Pediaciencias | |
| dc.publisher | Bogotá, Colombia | |
| dc.relation | Act Neurol. Colomb | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.rights | http://creativecommons.org/licenses/by-nc-nd/2.5/co/ | |
| dc.rights | http://purl.org/coar/access_right/c_abf2 | |
| dc.rights | https://creativecommons.org/licenses/by-nc-nd/4.0/ | |
| dc.subject | Enfermedad del Almacenamiento de Glucógeno Tipo II | |
| dc.subject | Glycogen Storage Disease Type II | |
| dc.subject | Fatiga Muscular | |
| dc.subject | Muscle Fatigue | |
| dc.subject | Insuficiencia Respiratoria | |
| dc.subject | Respiratory Insufficiency | |
| dc.subject | alfa-Glucosidasas | |
| dc.subject | alpha-Glucosidases | |
| dc.subject | Terapia de Reemplazo Enzimático | |
| dc.subject | Enzyme Replacement Therapy | |
| dc.title | Enfermedad de Pompe : descripción de las características clínicas y de laboratorio de una familia colombiana | |
| dc.title | Pompe disease : clinical presentation in a colombian family | |
| dc.type | info:eu-repo/semantics/article | |
| dc.type | info:eu-repo/semantics/publishedVersion | |
| dc.type | http://purl.org/coar/resource_type/c_6501 | |
| dc.type | https://purl.org/redcol/resource_type/ARTCASO | |
| dc.type | Reporte de caso |