1.
J Pediatr
; 143(2): 273-6, 2003 Aug.
Artículo
en Inglés
| MEDLINE
| ID: mdl-12970647
RESUMEN
Neuronopathic Gaucher disease, classically divided into two types, can have a continuum of phenotypes, often defying categorization. Nine children had an intermediate phenotype characterized by a delayed age of onset but rapidly progressive neurological disease, including refractory seizures and oculomotor abnormalities. There was genotypic heterogeneity among these patients.