[Tetrahydrobiopterin deficiency. Lessons from the analysis of 90 patients collected in the international register].
Dhondt
J L
JL
Laboratorie de Biochimie, Faculté Libre de Médecine, Lille.
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000178:diet therapy / Q000201:enzymology / Q000635:transmission; D001708:Biopterins / Q000031:analogs & derivatives* / Q000032:analysis / Q000172:deficiency / Q000235:genetics; D001826:Body Fluids / Q000032:analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010649:Phenylalanine / Q000008:administration & dosage / Q000097:blood* / Q000235:genetics; D012042:Registries; D009435:Synaptic Transmission
D001708:Biopterins; D010649:Phenylalanine; C003402:sapropterin
Les déficits en tétrahydrobioptérine. Enseignements de l'analyse de 90 patients colligés dans le registre international.