Publication The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study.
Publication New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
Publication Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
Publication An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.
