Detection of nonketotic hyperglycinemia in a neonate using proton magnetic resonance spectroscopy

Nonketotic hyperglycinemia (NKH) is a rare metabolic disorder caused by a defect in the glycine cleavage enzyme system, resulting in high glycine concentrations in the brain. We report a neonate in which proton magnetic resonance spectroscopy provided biochemical evidence of elevated brain glycine l...

Descripción completa

Detalles Bibliográficos
Autores principales: McAdams, Ryan Michael, Richards, Todd L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898175/
https://www.ncbi.nlm.nih.gov/pubmed/27307833
http://dx.doi.org/10.2484/rcr.v4i4.310

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898175/
https://www.ncbi.nlm.nih.gov/pubmed/27307833
http://dx.doi.org/10.2484/rcr.v4i4.310

Ejemplares similares