Meet the team
The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns