| Autor: |
Roesel RA; Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-3760., Byrne KM, Hommes F, Trefz J, Kelloes C, Nelson AM, Carroll JE |
| Jazyk: |
angličtina |
| Zdroj: |
Pediatric neurology [Pediatr Neurol] 1987 Jan-Feb; Vol. 3 (1), pp. 40-3. |
| DOI: |
10.1016/0887-8994(87)90054-3 |
| Abstrakt: |
Except for two reported patients, increased free sialic acid excretion has been associated with lysosomal storage. This is a report of a child with progressive neurologic deterioration and increased excretion of free sialic acid. Although lysosomal storage was absent, nuclear invagination or inclusions were present. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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