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

• Asıl Yazarlar: Yiming Lin (Yazar), Zhenzhu Zheng (Yazar), Wenjia Sun (Yazar), Qingliu Fu (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2018-01-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...