Tuba Eminoğlu

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

Silvia Radenkovic, Matthew Bird, Tim L. Emmerzaal et al. · The American Journal of Human Genetics · 2019 · 79 citations · Full text

Energy Metabolism, Signal Transduction, G Protein-coupled Receptor +13

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2

Junya Nakajima, Tuba Eminoğlu, Göksel Vatansever et al. · Journal of Human Genetics · 2014 · 31 citations · Full text

Lactic Acidosis, Mendelian Disorder, Sideroblastic Anemia 2 +9

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation

Tuba Eminoğlu, Buket Dalgıç, Leyla Tümer et al. · European Journal of Pediatrics · 2010 · 26 citations

Mitochondrial Myopathy, Mitochondrial Function, Mitochondrial Dynamic +7

Quality of life in children treated with restrictive diet for inherited metabolic disease

Tuba Eminoğlu, Sebnem A. Soysal, Leyla Tümer et al. · Pediatrics International · 2013 · 25 citations

Cystic Fibrosis Presenting with Neonatal Cholestasis Simulating Biliary Atresia in a Patient with a Novel Mutation

Tuba Eminoğlu, Emine Polat, Selim Gökçe et al. · The Indian Journal of Pediatrics · 2012 · 13 citations

Novel Mutation, Biliary Tract, Pediatrics +6