A new variant of biopterin deficiency.
Blaskovics
M
M
Giudici
T A
TA
D001708:Biopterins / Q000031:analogs & derivatives / Q000172:deficiency* / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010649:Phenylalanine / Q000097:blood
D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin