NEUROVISCERAL STORAGE DISEASE
| Autor: | B S Danes, H Grossman |
|---|---|
| Rok vydání: | 1968 |
| Předmět: | |
| Zdroj: | American Journal of Roentgenology. 103:149-153 |
| ISSN: | 1546-3141 0361-803X |
| DOI: | 10.2214/ajr.103.1.149 |
| Popis: | Neurovisceral storage disease is inherited as an autosomal recessive trait.The patients have clinical and roentgenographic features resembling Hurler's disease. There is severe progressive cerebral degeneration with death occurring in the first two years of life. Increased accumulation of ganglioside in the brain has been previously demonstrated.Two patients are reported who show, in addition, the increased synthesis and storage of mucopolysaccharide in skin fibroblast cultures. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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