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...
Autores Principales: | , , |
---|---|
Formato: | Artículo (Article) |
Lenguaje: | Español (Spanish) |
Publicado: |
Universidad Militar Nueva Granada
2017
|
Materias: | |
Acceso en línea: | http://hdl.handle.net/10654/34494 |