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

• Váldodahkkit: Yiming Lin (Dahkki), Zhenzhu Zheng (Dahkki), Wenjia Sun (Dahkki), Qingliu Fu (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2018-01-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: 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...