title: Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features.
authors.forename: Gurusidheshwar M
authors.initials: GM
authors.lastname: Wali
authors.forename: Beat
authors.initials: B
authors.lastname: Thony
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
mesh_terms: D000429:Alcohol Oxidoreductases / Q000134:cerebrospinal fluid / Q000172:deficiency*; D001921:Brain / Q000473:pathology; D002547:Cerebral Palsy / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003072:Cognition Disorders / Q000175:diagnosis / Q000453:epidemiology; D006970:Disorders of Excessive Somnolence / Q000175:diagnosis / Q000453:epidemiology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000453:epidemiology / Q000235:genetics*; D009483:Neuropsychological Tests; D012720:Severity of Illness Index; D035781:Siblings; D014743:Videotape Recording
chemical_list: D000429:Alcohol Oxidoreductases; C022630:sepiapterin reductase