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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...
Autores principales: | McAdams, Ryan Michael, Richards, Todd L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2015
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Materias: | |
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 |
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