Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency: a report of 16 cases.
Coskun
T
T
Department of Pediatrics, Hacettepe University, Faculty of Medicine, Hacettepe/Ankara, Turkey.
Ozalp
I
I
Tokatli
A
A
Blau
N
N
Niederwieser
A
A
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000178:diet therapy / Q000235:genetics; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D002851:Chromatography, High Pressure Liquid; D004032:Diet; D004563:Electrochemistry; D005260:Female; D006801:Humans; D008297:Male; D010649:Phenylalanine / Q000097:blood*
D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin