Hyperfenylalaninemie
ORPHA:238583· ICD-10 E70.1· Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
- Prevalence
- 1-9 / 1 000 000
- Dědičnost
- Autosomal recessive
- Věk nástupu
- Infancy, Neonatal
ORPHA:238583· ICD-10 E70.1· Hyperphenylalaninemia due to tetrahydrobiopterin deficiency