Novel cerebrotendinous xanthomatosis mutationcauses familial early dementia in Colombia

ABSTRACT: Cerebrotendinous xanthomatosis is an infrequent cause of dementia. It is an autosomal recessive disorder with clinical and molecular heterogeneity. Objective: To identify the presence of a possible mutation in a Colombian family with several affected siblings and clinical characteristics c...

Full description

Autores:

Giraldo Chica, Margarita María
Acosta Baena, Natalia
Urbano, Lorena
Velilla, Lina
Lopera Restrepo, Francisco Javier
Pineda Trujillo, Nicolás Guillermo

Tipo de recurso:

Article of journal

Fecha de publicación:

2015

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/36452

Acceso en línea:

https://hdl.handle.net/10495/36452

Palabra clave:

Xantomatosis
Xanthomatosis
Esquizofrenia
Schizophrenia
Demencia
Dementia
Genética
genetics
Exones
Exons
Pruebas Neuropsicológicas
Neuropsychological Tests

Rights

openAccess

License

https://creativecommons.org/licenses/by-nc-nd/4.0/