Scharer GH

Latest

• 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