Neuraminidase deficiency: case report and review of the phenotype.
نویسندگان
چکیده
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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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 24 5 شماره
صفحات -
تاریخ انتشار 1987