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. 1987 May;24(5):283–290. doi: 10.1136/jmg.24.5.283

Neuraminidase deficiency: case report and review of the phenotype.

I D Young, E P Young, J Mossman, A R Fielder, J R Moore
PMCID: PMC1050052  PMID: 3585942

Abstract

A 12 year old boy with neuraminidase deficiency (sialidosis, mucolipidosis I) is described. His clinical features included coarse facies, cherry red spot, ataxia, myoclonus, and dysotosis multiplex. The level of neuraminidase activity in cultured fibroblasts was very low and intermediate levels were observed in both parents. The clinical disorders associated with neuraminidase deficiency are reviewed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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