Carbamoyl-Phosphat-Synthetase I-Mangel
CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
OMIM: 237300
Synonyme
- CPSI-Mangel
- Hyperammonämie
- CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY
- CPS I DEFICIENCY
Genorte
- CPS1(OMIM 608307)