Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
J Pediatr
; 143(2): 273-6, 2003 Aug.
Article
em En
| MEDLINE
| ID: mdl-12970647
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Doença de Gaucher
Limite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
2003
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
Estados Unidos