Enzyme studies in GM2 gangliosidiosis, and their application in prenatal diagnosis.
Indian J Pediatr
;
1995 Jul-Aug; 62(4): 485-9
Artigo
em Inglês
| IMSEAR
| ID: sea-78567
ABSTRACT
Assay of hexosaminidase A and B enzymes in four cases with developmental regression and cherry red spot on fundus examination confirmed that three cases had Tay-Sachs disease, and one case had Sandhoff disease. Prenatal diagnosis was carried out by hexosaminidase enzyme assay in amniotic fluid and cells in one family, and chorionic villus sample in the second family. The fetus was diagnosed to be unaffected in one, and affected in the other family. Assay of hexosaminidase A and B is useful for specific diagnosis of GM2 gangliosidosis, and for prenatal diagnosis to reduce the burden of these disorders.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Diagnóstico Pré-Natal
/
Doença de Sandhoff
/
Doença de Tay-Sachs
/
Beta-N-Acetil-Hexosaminidases
/
Feminino
/
Humanos
/
Gravidez
/
Biomarcadores
/
Sensibilidade e Especificidade
/
Hexosaminidase A
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
1995
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS