Cargando…
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia
Non-ketotic hyperglycinemia (NKH) is a rare inborn error of metabolism and is caused by a glycine cleavage system deficiency. Eighty-five percent of patients present with the neonatal type of NKH, the infants initially develop lethargy, seizures, and episodes of apnea, and most often death. Between...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Riyadh : Armed Forces Hospital
2017
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726819/ https://www.ncbi.nlm.nih.gov/pubmed/28416785 http://dx.doi.org/10.17712/nsj.2017.2.20160468 |