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...

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Detalles Bibliográficos
Autores principales: Kose, Engin, Yis, Uluc, Hiz, Semra, Arslan, Nur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Riyadh : Armed Forces Hospital 2017
Materias:
Case Report
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

Internet

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

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