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Author

Olga Grafakou

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
2009 · Dirk J. Lefeber, Johannes Schönberger, et al. · The American Journal of Human Genetics · 202
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Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation
2003 · Olga Grafakou, Konrad Oexle, et al. · European Journal of Pediatrics · 67
Valproate effect on ketosis in children under ketogenic diet
2016 · Martha Spilioti, Evangelos Pavlou, et al. · European Journal of Paediatric Neurology · 30
Mesenteric lymphadenopathy as a cause of abdominal pain in children with lobar or segmental pneumonia
2003 · Maria Moustaki, Petros M. Zeis, et al. · Pediatric Pulmonology · 26
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
2021 · Annemiek M.J. van Wegberg, Friedrich Trefz, et al. · The Journal of Pediatrics · 23
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Can chest X‐ray predict pneumonia severity?
2004 · Olga Grafakou, Maria Moustaki, et al. · Pediatric Pulmonology · 22
Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene
2003 · O. Grafakou, F. A. Hol, et al. · Journal of Inherited Metabolic Disease · 22
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
2024 · Bianca Panis, E. Naomi Vos, et al. · Frontiers in Genetics · 14
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Inherited metabolic disorders in Cyprus
2024 · Theodoros Georgiou, Petros P. Petrou, et al. · Molecular Genetics and Metabolism Reports · 8
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report
2024 · Anna Malekkou, Marios Tomazou, et al. · BMC Medical Genomics · 7
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Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes
2021 · Ioannis Zaganas, Pelagia Vorgia, et al. · Epilepsy & Behavior Reports · 7
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Health and well‐being of maturing adults with classic galactosemia
2024 · Olivia S. Garrett, Jared J. Druss, et al. · Journal of Inherited Metabolic Disease · 6
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Development of subdural effusions in association with pyruvate dehydrogenase deficiency
2005 · Maria Raissaki, Olga Grafakou, et al. · European Radiology · 5
YME1L1 Dysfunction Associated With 3‐Methylglutaconic Aciduria
2025 · Anthi Demetriadou, Olga Grafakou, et al. · Journal of Inherited Metabolic Disease · 3
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GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
2023 · Anna Malekkou, Athina Theodosiou, et al. · Molecular Genetics and Metabolism Reports · 3
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics
2024 · Theodoros Georgiou, Olga Grafakou, et al. · Molecular Genetics and Metabolism Reports · 1
Diagnostic Whole Exome Sequencing to Study a Cohort of Greek Patients with Heterogeneous Neurological and Other Disorders (P5.134)
2016 · Ioannis Zaganas, Emmanouella Vogiatzi, et al. · Neurology · 1
Works count: 19
Citation count: 447
H-index: 8
I10-index: 8
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