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DC Field | Value | Language |
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dc.contributor.author | Mora Matallana, María Angélica | |
dc.contributor.author | Castañeda Ibáñez, Nolly Nataly; Asesor | |
dc.coverage.spatial | Bogotá D.C. | es_ES |
dc.date.accessioned | 2018-04-23T16:13:08Z | |
dc.date.available | 2018-04-23T16:13:08Z | |
dc.date.issued | 2017 | |
dc.identifier.uri | http://hdl.handle.net/10656/5964 | |
dc.description.abstract | La Enfermedad de Fabry es un trastorno genético poco frecuente reconocido en Colombia como una enfermedad rara y huérfana debido a la deficiencia de la enzima hidrolasa alfa-galactosidasa, la cual ocasiona acumulación de lípidos a nivel celular, provocando un cuadro clínico multisistemico y degenerativo, que afecta principalmente a nivel renal, cardíaco y cerebrovascular. Se reporta un caso familiar de un participante masculino de 51 años con mutación De novo y su descendencia, hija heterocigota con mutación e hijo sano sin mutación con el fin de conocer las características neuropsicológicas en relación con la enfermedad. Para evaluar dichas características neuropsicológicas de los participantes se utilizaron las Escalas de inteligencia de Wechsler para niños y para adultos y su versión en español las cuales permitieron evidenciar una medida de inteligencia; el protocolo neuropsicológico aplicado en el adulto abarca diferentes tipos de pruebas con algunos baremos para población colombiana, mientras que para los niños se aplicó la Evaluación Neuropsicológica Infantil - ENI. | en |
dc.language.iso | es | en |
dc.publisher | Corporación Universitaria Minuto de Dios | en |
dc.subject | Neuropsicología | en |
dc.subject | Mutación de Novo | en |
dc.subject | Trastorno Genético | en |
dc.subject | Enfermedades | en |
dc.subject | Neuropsicología Infantil | en |
dc.title | Evaluación neuropsicológica en miembros de una familia con mutación de novo para la enfermedad de Fabry en Bogotá, Colombia. | en |
dc.type | Thesis | en |
dc.subject.lemb | Neuropsicología | es |
dc.subject.lemb | Psicología | es |
dc.subject.lemb | Aprendizaje – Aspectos fisiológico | es |
dc.subject.lemb | Psicopatología Infantil | es |
dc.publisher.program | Psicología | es_ES |
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