A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia
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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2018-01-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-017-0517-1 |