Partial N-acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders.
Burlina
A B
AB
Department of Pediatrics, University of Padua, Padova, Italy.
Bachmann
C
C
Wermuth
B
B
Bordugo
A
A
Ferrari
V
V
Colombo
J P
JP
Zacchello
F
F
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
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