The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Carbamoyl Phosphate Synthetase 1 Deficiency

Neonatal-onset urea cycle disorders (UCDs) may result in hyperammonemic (HA) encephalopathy presenting with several neurologic sequelae including seizures, coma, and death. However, no recommendations are given in how and when neurodiagnostic studies should be used to screen or assess for these neur...

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Detalles Bibliográficos
Autores principales: McGowan, Meaghan, Ferreira, Carlos, Whitehead, Matthew, Basu, Sudeepta K., Chang, Taeun, Gropman, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7841664/
https://www.ncbi.nlm.nih.gov/pubmed/33644249
http://dx.doi.org/10.1177/2329048X20985179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7841664/
https://www.ncbi.nlm.nih.gov/pubmed/33644249
http://dx.doi.org/10.1177/2329048X20985179

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