Hyperphenylalaninemia due to inherited deficiencies of tetrahydrobiopterin.
Matalon
R
R
University of Illinois, Chicago.
Michals
K
K
Blau
N
N
Rouse
B
B
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism* / Q000628:therapy; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency; D006801:Humans; D007231:Infant, Newborn; D010649:Phenylalanine / Q000097:blood / Q000378:metabolism*; D011296:Prenatal Diagnosis
D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin