Analysis of β-galactosilceramidase leukocytal in Colombian in patients with suspect clinic of Krabbe disease, a screening of high risk

 Krabbe disease is a disorder of autosomal recessive sphingolipid metabolism caused by deficiency β-galactosylceramidase (β-Galsil) (EC3.2.1.46), an enzymatic defect that causes a hurt neurodegenerative, muscular hypertonia and Spasticity, convulsions, hearing loss and in 85% of cases early death, a...

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Detalles Bibliográficos
Autores Principales: Jay Garcia, Lina Manuela, Uribe Ardila, Alfredo, Ayala Fajardo, Adis
Formato: Artículo (Article)
Lenguaje:Español (Spanish)
Publicado: Universidad Militar Nueva Granada 2017
Materias:
Acceso en línea:http://hdl.handle.net/10654/34494