New variant of hyperphenylalaninaemia with excretion of 7-substituted pterins.
Blau
N
N
Dhondt
J L
JL
Guibaud
P
P
Kuster
T
T
Curtius
H C
HC
D001708:Biopterins / Q000031:analogs & derivatives* / Q000652:urine; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D010649:Phenylalanine / Q000097:blood*
C056248:anapterin; D001708:Biopterins; C056246:primapterin; D010649:Phenylalanine