Fatma Tuba Eminoğlu

TMEM70 deficiency: long‐term outcome of 48 patients

Martin Magner, Veronika Dvořáková, Markéta Tesařová et al. · Journal of Inherited Metabolic Disease · 2014 · 68 citations

Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: Identification of new case with novel mutation

İlyas Okur, Fatih Süheyl Ezgü, Gürsel Biberoğlu et al. · Gene · 2013 · 41 citations

Hemodialysis, Urology, Renal Disease +11

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Trine Tangeraas, Juliana Ribeiro Constante, Paul Hoff Backe et al. · Brain · 2023 · 30 citations · Full text

Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation

Fehime Kara Eroğlu, Fatih Özaltın, Nazlı Gönç et al. · Pediatric Neurology · 2018 · 29 citations

Genetics, Molecular Biology, Medicine +3

Effects of levetiracetam and valproic acid treatment on liver function tests, plasma free carnitine and lipid peroxidation in childhood epilepsies

Pınar Haznedar, Özlem Doğan, Pelin Albayrak et al. · Epilepsy Research · 2019 · 28 citations

Free Carnitine, Medicine, Liver Function Tests +4