| Autor: |
Farriaux, J., Dhondt, J., Cathelineau, L., Ratel, J., Fontaine, G. |
| Zdroj: |
Zeitschrift für Kinderheilkunde; 1974, Vol. 118 Issue 3, p231-247, 17p |
| Abstrakt: |
A new case of deficiency of ornithine-carbamyl transferase is reported. To the best of our knowledge, this is the 23rd case (10th case in a male). This new case is conventional as far as the clinical and biological data are concerned. Nevertheless, an original feature must be noted: The enzyme deficiency, while large (2% of the normal), is clinically well tolerated at the age of 9 months with a simple restriction of proteins. A review of the literature shows, in fact, that the other male children showing a deficiency below 5% of normal have all died in the post natal period. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
