Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome.
Neuropediatrics
; 44(4): 235-6, 2013 Aug.
Article
em En
| MEDLINE
| ID: mdl-23483445
Increasingly, the absence of SLC2A1 mutations causes pediatricians to abandon the diagnosis of Glut1 deficiency. For several reasons this is not justified. Potential disease mechanisms in SLC2A1-negative Glut1 deficiency are discussed.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte de Monossacarídeos
/
Erros Inatos do Metabolismo dos Carboidratos
/
Transportador de Glucose Tipo 1
/
Mutação
Limite:
Humans
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article