A carregar...
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...
Na minha lista:
| Publicado no: | Neurosciences (Riyadh) |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Riyadh : Armed Forces Hospital
2017
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5726819/ https://ncbi.nlm.nih.gov/pubmed/28416785 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.17712/nsj.2017.2.20160468 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|