Deficit pyruvátkarboxylasy, těžký novorozenecký typ
ORPHA:353314· ICD-10 E74.4· Pyruvate carboxylase deficiency, severe neonatal type
- Prevalence
- Unknown
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy, Neonatal
ORPHA:353314· ICD-10 E74.4· Pyruvate carboxylase deficiency, severe neonatal type