[Hyperphenylalaninemia on account of biopterin deficiency. The phenylalanine hydroxylase complex and presentation of a patient with cofactor deficiency].
D001708:Biopterins / Q000031:analogs & derivatives / Q000172:deficiency*; D006801:Humans; D007223:Infant; D008297:Male; D010651:Phenylalanine Hydroxylase / Q000378:metabolism*; D010661:Phenylketonurias / Q000378:metabolism*; D011621:Pteridines / Q000172:deficiency*
D011621:Pteridines; D001708:Biopterins; D010651:Phenylalanine Hydroxylase; C003402:sapropterin
Hyperfenylalaninaemi på basis af biopterinmangel. Fenylalanin-hydroksylasekomplekset og praesentation af et tilfaelde med kofaktor-defekt.