Hyperphenylalaninämie, BH4-deficient C
Hyperphenylalaninemia, BH4-deficient C
OMIM: 261630
Synonyme
- Dihydropteridinreduktase-Mangel
- DHPR-Mangel
- QDPR-Mangel
- quinoid dihydropteridine reductase deficiency
- dihydropteridine reductase deficiency
Genorte
- QDPR(OMIM 612676)