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

• Hoofdauteurs: Yiming Lin (Auteur), Zhenzhu Zheng (Auteur), Wenjia Sun (Auteur), Qingliu Fu (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2018-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract 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...