Mucolipidoses--II: A report of three cases.
Indian J Pediatr
;
1995 Sep-Oct; 62(5): 611-4
Artigo
em Inglês
| IMSEAR
| ID: sea-84511
ABSTRACT
Mucolipidoses II is a rare lysosomal storage disorder with autosomal recessive inheritance. There cases with typical clinical features in early infancy like coarse facial features, severe psychomotor retardation and joint contractures are being reported. All the cases had no mucopolysacchariduria. These cases had normal values of lysosomal enzymes in leucocytes but markedly increased values in serum thus confirming mucolipidoses II. Despite the fact that there is no specific treatment, genetic counselling and prenatal diagnosis is indicated.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Fenótipo
/
Feminino
/
Humanos
/
Masculino
/
Aberrações Cromossômicas
/
Transtornos Cromossômicos
/
Genes Recessivos
/
Lactente
/
Mucolipidoses
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
1995
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS