| Autor: |
Oonk JG, van der Helm HJ, Martin JJ |
| Jazyk: |
angličtina |
| Zdroj: |
Neurology [Neurology] 1979 Mar; Vol. 29 (3), pp. 380-4. |
| DOI: |
10.1212/wnl.29.3.380 |
| Abstrakt: |
Two adult sisters had spinocerebellar degeneration. Biochemical studies revealed a very low activity of both fraction A and fraction B of the lysosomal enzyme, hexosaminidase, in serum and leukocytes. A skin biopsy showed lesions suggestive of neuronal storage disease. The disorder seems to be an adult form of GM2 gangliosidosis. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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