Nonketotic hyperglycinemia
Definition:
References:
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[1]. Avihu Boneh, et al. A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. J Hum Genet. 2005;50(5):230-234. [Content Brief]
[2]. D A Applegarth, et al. Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab. 2001 Sep-Oct;74(1-2):139-46. [Content Brief]
[3]. J R Toone, et al. Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Mol Genet Metab. 2000 Jun;70(2):116-21. [Content Brief]
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