Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

Neonatal encephalopathy with seizures is a presentation in which rapid whole-genome sequencing (rWGS) has shown clinical utility and improved outcomes. We report a neonate who presented on the third day of life with seizures refractory to antiepileptic medications and neurologic and computerized tom...

Descripción completa

Detalles Bibliográficos
Autores principales: Kingsmore, Stephen F., Ramchandar, Nanda, James, Kiely, Niemi, Anna-Kaisa, Feigenbaum, Annette, Ding, Yan, Benson, Wendy, Hobbs, Charlotte, Nahas, Shareef, Chowdhury, Shimul, Dimmock, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996516/
https://www.ncbi.nlm.nih.gov/pubmed/32014857
http://dx.doi.org/10.1101/mcs.a004705

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996516/
https://www.ncbi.nlm.nih.gov/pubmed/32014857
http://dx.doi.org/10.1101/mcs.a004705

Ejemplares similares