Molecular genetics and metabolism

Fetal enzyme replacement and stem cell transplantation in murine Sly syndrome targeting microglia.

Disease specific therapies in leukodystrophies and leukoencephalopathies.

A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate.

Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate.