Mucolipidoses--II: A report of three cases.

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Date
1995-09-01
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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.
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Lalwani SG, Kher A, Shridhar N, Bharucha BA, Naik GG. Mucolipidoses--II: A report of three cases. Indian Journal of Pediatrics. 1995 Sep-Oct; 62(5): 611-4
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https://imsear.searo.who.int/handle/123456789/84511
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Indian Journal of Pediatrics