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1.
Indian Pediatr ; 1999 Apr; 36(4): 411-2
Article in English | IMSEAR | ID: sea-13069
5.
Indian J Pediatr ; 1995 Sep-Oct; 62(5): 611-4
Article in English | 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.


Subject(s)
Chromosome Aberrations/genetics , Chromosome Disorders , Female , Genes, Recessive/genetics , Humans , Infant , Male , Mucolipidoses/diagnosis , Phenotype
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