Vassiliki Konstantopoulou

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

Sarah C. Grünert, S. Müllerleile, Linda De Silva et al. · Orphanet Journal of Rare Diseases · 2013 · 188 citations · Full text

Medicine, Endocrinology, Pediatrics +13

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

Xiaowu Gai, Daniele Ghezzi, Mark Johnson et al. · The American Journal of Human Genetics · 2013 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 140 citations · Full text

Medicine, Neurology, Pharmacotherapy +16

Propionic acidemia: neonatal versus selective metabolic screening

Sarah C. Grünert, S. Müllerleile, L. de Silva et al. · Journal of Inherited Metabolic Disease · 2011 · 91 citations · Full text

Medicine, Child Health, Pediatrics +13