Hyperamonémie způsobená deficitem N-acetylglutamát syntázy
ORPHA:927· ICD-10 E72.2· Hyperammonemia due to N-acetylglutamate synthase deficiency
- Prevalence
- <1 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- All ages
ORPHA:927· ICD-10 E72.2· Hyperammonemia due to N-acetylglutamate synthase deficiency