Mucolipidoses--II: A report of three cases.
Indian J Pediatr
;
1995 Sep-Oct; 62(5): 611-4
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Phénotype
/
Femelle
/
Humains
/
Mâle
/
Aberrations des chromosomes
/
Maladies chromosomiques
/
Gènes récessifs
/
Nourrisson
/
Mucolipidoses
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
1995
Type:
Article
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