title: Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.
authors.affiliation: Department of Pediatrics, University of Padua, Padova, Italy.
authors.forename: A B
authors.initials: AB
authors.lastname: Burlina
authors.forename: C
authors.initials: C
authors.lastname: Bachmann
authors.forename: B
authors.initials: B
authors.lastname: Wermuth
authors.forename: A
authors.initials: A
authors.lastname: Bordugo
authors.forename: V
authors.initials: V
authors.lastname: Ferrari
authors.forename: J P
authors.initials: JP
authors.lastname: Colombo
authors.forename: F
authors.initials: F
authors.lastname: Zacchello
mesh_terms: D000123:Acetyltransferases / Q000172:deficiency*; D051046:Amino-Acid N-Acetyltransferase; D000641:Ammonia / Q000097:blood; D001120:Arginine / Q000627:therapeutic use; D001565:Benzoates / Q000627:therapeutic use; D019817:Benzoic Acid; D001921:Brain / Q000473:pathology; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009069:Movement Disorders / Q000201:enzymology* / Q000473:pathology; D009963:Orotic Acid / Q000652:urine
chemical_list: D001565:Benzoates; D004044:Dietary Proteins; D009963:Orotic Acid; D000641:Ammonia; D019817:Benzoic Acid; D001120:Arginine; D000123:Acetyltransferases; D051046:Amino-Acid N-Acetyltransferase; C494874:NAGS protein, human