Olga Grafakou

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

Dirk J. Lefeber, Johannes L. Schönberger, Éva Morava et al. · The American Journal of Human Genetics · 2009 · 197 citations · Full text

Biosynthesis, Mendelian Disorder, Biochemistry +9

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation

Olga Grafakou, Konrad Oexle, Lambert van den Heuvel et al. · European Journal of Pediatrics · 2003 · 62 citations

Biochemistry, Genetic Disorder, Natural Sciences +9

Valproate effect on ketosis in children under ketogenic diet

Martha Spilioti, Evangelos Pavlou, Irene Katsanika et al. · European Journal of Paediatric Neurology · 2016 · 29 citations

Nutrition, Valproate Effect, Medicine +7

Mesenteric lymphadenopathy as a cause of abdominal pain in children with lobar or segmental pneumonia

Maria Moustaki, Petros M. Zeis, Maria Katsikari et al. · Pediatric Pulmonology · 2003 · 25 citations

Abdominal Pain, Consecutive Children, Medicine +9

Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNA^Ser(UCN) gene

Olga Grafakou, Frans A. Hol, Karl Otfried Schwab et al. · Journal of Inherited Metabolic Disease · 2003 · 23 citations