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- Title
Neuraminidase deficiency: case report and review of the phenotype.
- Authors
Young, I D; Young, E P; Mossman, J; Fielder, A R; Moore, J R
- 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.
- Publication
Journal of medical genetics, 1987, Vol 24, Issue 5, p283
- ISSN
0022-2593
- Publication type
Journal Article
- DOI
10.1136/jmg.24.5.283