A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia

BACKGROUND: Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients. This study aimed to identify the genetic mutations in a Chinese family w...

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Detalles Bibliográficos
Autores principales: Lin, Yiming, Zheng, Zhenzhu, Sun, Wenjia, Fu, Qingliu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755286/
https://www.ncbi.nlm.nih.gov/pubmed/29304759
http://dx.doi.org/10.1186/s12881-017-0517-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755286/
https://www.ncbi.nlm.nih.gov/pubmed/29304759
http://dx.doi.org/10.1186/s12881-017-0517-1

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