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The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

Low bone mineral density is a common finding in patients with homocystinuria

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

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Curtis Coughlin II

• Sep 1, 2015 • 1 min read

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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Clinical and biochemical characterization of four patients with mutations in ECHS1