Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report.

Yang, Xiaoyan

Neonatal-onset carbamoyl phosphate synthetase I deficiency: A case report. [electronic resource] - Medicine Jun 2017 - e7365 p. digital

Publication Type: Case Reports; Journal Article

1536-5964

10.1097/MD.0000000000007365 doi


Brain--diagnostic imaging
Carbamoyl-Phosphate Synthase (Ammonia)--genetics
Carbamoyl-Phosphate Synthase I Deficiency Disease--diagnosis
Early Diagnosis
Female
Humans
Infant, Newborn
Treatment Refusal