Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
Blau
N
N
Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland. blau@kispi.unizh.ch
Thöny
B
B
Renneberg
A
A
Penzien
J M
JM
Hyland
K
K
Hoffmann
G F
GF
D000284:Administration, Oral; D001708:Biopterins / Q000031:analogs & derivatives / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D006801:Humans; D008297:Male; D010649:Phenylalanine / Q000008:administration & dosage / Q000378:metabolism*; D010661:Phenylketonurias; D014443:Tyrosine / Q000378:metabolism
D001708:Biopterins; D014443:Tyrosine; D010649:Phenylalanine; C003402:sapropterin