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

RATIONALE: The carbamoyl phosphate synthetase I deficiency (CPS1D) was rare and hard to diagnose due to its atypical symptoms. Brain magnetic resonance imaging (MRI) was typically unavailable in other reports because most patients died before diagnosis was confirmed. Furthermore, it was found a new...

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Detalles Bibliográficos
Autores principales:	Yang, Xiaoyan, Shi, Jing, Lei, Haihong, Xia, Bin, Mu, Dezhi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2017
Materias:	6200
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500080/ https://www.ncbi.nlm.nih.gov/pubmed/28658158 http://dx.doi.org/10.1097/MD.0000000000007365

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