title: Tetrahydrobiopterin deficiency and an international database of patients.
authors.affiliation: Department of Pediatrics, University of Zurich, Switzerland.
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: J L
authors.initials: JL
authors.lastname: Dhondt
mesh_terms: D006916:5-Hydroxytryptophan / Q000627:therapeutic use; D000429:Alcohol Oxidoreductases / Q000172:deficiency; D015415:Biomarkers / Q000097:blood / Q000652:urine; D001708:Biopterins / Q000031:analogs & derivatives* / Q000172:deficiency; D002230:Carbidopa / Q000627:therapeutic use; D002648:Child; D004093:Dihydropteridine Reductase / Q000097:blood; D006136:GTP Cyclohydrolase / Q000172:deficiency; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency; D007256:Information Systems; D007980:Levodopa / Q000627:therapeutic use; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias; D019761:Phosphorus-Oxygen Lyases; D011622:Pterins / Q000097:blood / Q000652:urine; D012042:Registries
chemical_list: D015415:Biomarkers; D011622:Pterins; D001708:Biopterins; D007980:Levodopa; D010649:Phenylalanine; D006916:5-Hydroxytryptophan; D000429:Alcohol Oxidoreductases; D004093:Dihydropteridine Reductase; D006136:GTP Cyclohydrolase; D006836:Hydro-Lyases; C076392:pterin-4a-carbinolamine dehydratase; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase; C003402:sapropterin; D002230:Carbidopa