| Autor: |
Bartlett, K., Ghneim, H. K., Stirk, J. -H., Dale, G., Alberti, K. G. M. M. |
| Zdroj: |
Journal of Inherited Metabolic Disease; March 1984, Vol. 7 Issue: Supplement 1 p74-78, 5p |
| Abstrakt: |
The causes of congenital lactic acidaemia are outlined. Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences. Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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