GM2 Gangliosidosis II / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 244-249, 1999.
Artigo
em Coreano
| WPRIM
| ID: wpr-185447
ABSTRACT
GM2 gangliosidosis II(Sandhoff disease) is a lysosomal storage disease due to deficiency of beta-hexosaminidase activity, transmitted by mode of autosomal recessive. Clinical features are so variable, ranging from infantile onset resulting death before 4 years, to subacute or chronic forms with more slowly progressive neurologic condition. We experienced a case of GM2 gangliosidosis II in a 14 months old male who had developmental deterioration and seizures, so we report and review the related literatures.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Beta-N-Acetil-Hexosaminidases
/
Doenças por Armazenamento dos Lisossomos
/
Gangliosidoses GM2
/
Hexosaminidases
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Child Neurology Society
Ano de publicação:
1999
Tipo de documento:
Artigo
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