| Autor: |
Chappel, A., Scholem, R. D., Brown, G. K., Truscott, R. M., Cotton, R. G. H., Haan, E. A., Danks, D. M. |
| Zdroj: |
Journal of Inherited Metabolic Disease; June 1983, Vol. 6 Issue: 3 p105-107, 3p |
| Abstrakt: |
Evidence is presented that a deficiency of 2-deoxyribose-5-phosphate aldolase was present in a previously described patient who excreted metabolites of 2-deoxyribose in his urine. Minor clinical abnormalities present did not appear related to this disorder. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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