Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

(2013) Peter R. Baker et al.   BRAIN

Nonketotic Hyperglycinemia Presenting as Pulmonary Hypertensive Vascular Disease and Fatal Pulmonary Edema in Response to Pulmonary Vasodilator Therapy

(2012) Juan José Menéndez Suso et al.   JOURNAL OF PEDIATRICS

Pitfalls in Measuring Cerebrospinal Fluid Glycine Levels in Infants With Encephalopathy

(2011) Samah Aburahma et al.   JOURNAL OF CHILD NEUROLOGY

Prediction of long-term outcome in glycine encephalopathy: a clinical survey

(2011) Julia B. Hennermann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia

(2008) Goro KIKUCHI et al.   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES