Mucolipidoses--II: A report of three cases.

Abstract excerpt

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...

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