[Biopterin synthesis defects: complete deficiencies (reductase and synthetase)].
D000429:Alcohol Oxidoreductases / Q000172:deficiency; D001707:Biopsy, Needle; D001708:Biopterins / Q000031:analogs & derivatives / Q000172:deficiency* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D010649:Phenylalanine; D010661:Phenylketonurias / Q000175:diagnosis / Q000378:metabolism*; D011621:Pteridines / Q000172:deficiency*; D011622:Pterins / Q000652:urine
D011621:Pteridines; D011622:Pterins; D001708:Biopterins; D010649:Phenylalanine; C017226:7,8-dihydrobiopterin; C020037:7,8-dihydrobiopterin synthetase; D000429:Alcohol Oxidoreductases; C003402:sapropterin
Les défauts de synthèse des bioptérines: les déficits complets (réductase et synthétase).