1.
J Inherit Metab Dis
; 11(2): 191-3, 1988.
Artículo
en Inglés
| MEDLINE
| ID: mdl-3139931
RESUMEN
A second patient with N-acetylglutamate synthetase deficiency is described. The first symptoms were noted at 6 days of age. The course was lethal despite vigorous treatment. The diagnosis was established after death.