| Autor: |
Jensen, P. R., Hansen, F. J., Skovby, F. |
| Zdroj: |
Neuroradiology; May 1995, Vol. 37 Issue: 4 p328-330, 3p |
| Abstrakt: |
We describe seven children with the carbohydrate-deficient glycoprotein syndrome, an autosomal recessive inborn error of protein glycosylation characterised by failure to thrive, neurological dysfunction and a unique pattern of physical abnormalities. Neuroradiological investigations revealed cerebellar hypoplasia in all seven children. Two children also developed supratentorial atrophy following episodes of neurological deterioration. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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