Gunter Scharer

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Review · Molecular Genetics and Metabolism · 2011 · 225 citations

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

Case report · Brain · 2014 · 171 citations