Dihydropteridine reductase deficiency localized to the central nervous system.
Blau
N
N
Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland.
Thöny
B
B
Renneberg
A
A
Arnold
L A
LA
Hyland
K
K
D001708:Biopterins / Q000031:analogs & derivatives / Q000172:deficiency; D002490:Central Nervous System / Q000201:enzymology*; D002648:Child; D006719:Homovanillic Acid / Q000134:cerebrospinal fluid; D006801:Humans; D006897:Hydroxyindoleacetic Acid / Q000134:cerebrospinal fluid; D008297:Male; D010661:Phenylketonurias
D001708:Biopterins; D006897:Hydroxyindoleacetic Acid; C003402:sapropterin; D006719:Homovanillic Acid