First-trimester prenatal diagnosis of non-ketotic hyperglycinaemia by a micro assay of glycine cleavage enzyme
Author:
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Reference2 articles.
1. Prenatal diagnosis of nonketotic hyperglycinemia: Enzymatic analysis of the glycine cleavage system in chorionic villi
2. Prenatal diagnosis of Non-ketotic hyperglycinaemia
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5;Brain;2013-12-10
2. Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation;Annals of Neurology;2006-01-10
3. Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH);Molecular Genetics and Metabolism;2003-08
4. Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy);Prenatal Diagnosis;2002
5. Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses;Prenatal Diagnosis;2000-05
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