A case with Gaucher disease unable to reach enzyme replacement therapy because of COVID-19 quarantine: The first case from Turkey

por Yekedüz, Merve Koç, Köse, Engin, Eminoğlu, Fatma Tuba
Publicado 2021

Delayed Diagnosis of Cobalamin E Defect in an Adolescent Patient

por Yekedüz, Merve Koç, Ince, Elif Unal, İleri, Talia, Ertem, Mehmet, Eminoğlu, Fatma Tuba
Publicado 2020

Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases

por Gencer Öncül, Emine Begüm, Duman, Duygu, Eminoğlu, Fatma Tuba, Aktuna, Süleyman, Duman, Mustafa Türker
Publicado 2022

Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders

por Eminoğlu, Fatma Tuba, Öncül, Ümmühan, Kahveci, Fevzi, Okulu, Emel, Kraja, Elvis, Köse, Engin, Kendirli, Tanıl
Publicado 2021

Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience

por AKDUMAN, Hasan, OKULU, Emel, EMİNOĞLU, Fatma Tuba, KENDİRLİ, Tanıl, TUNÇ, Gaffari, AZAPAĞASI, Ebru, PERK, Oktay, EREDEVE, Ömer, ATASAY, Begüm, ARSAN, Saadet
Publicado 2020

Three-Country Snapshot of Ornithine Transcarbamylase Deficiency

por Seker Yilmaz, Berna, Baruteau, Julien, Arslan, Nur, Aydin, Halil Ibrahim, Barth, Magalie, Bozaci, Ayse Ergul, Brassier, Anais, Canda, Ebru, Cano, Aline, Chronopoulou, Efstathia, Connolly, Grainne M., Damaj, Lena, Dawson, Charlotte, Dobbelaere, Dries, Douillard, Claire, Eminoglu, Fatma Tuba, Erdol, Sahin, Ersoy, Melike, Fang, Sherry, Feillet, François, Gokcay, Gulden, Goksoy, Emine, Gorce, Magali, Inci, Asli, Kadioglu, Banu, Kardas, Fatih, Kasapkara, Cigdem Seher, Kilic Yildirim, Gonca, Kor, Deniz, Kose, Melis, Marelli, Cecilia, Mundy, Helen, O’Sullivan, Siobhan, Ozturk Hismi, Burcu, Ramachandran, Radha, Roubertie, Agathe, Sanlilar, Mehtap, Schiff, Manuel, Sreekantam, Srividya, Stepien, Karolina M., Uzun Unal, Ozlem, Yildiz, Yilmaz, Zubarioglu, Tanyel, Gissen, Paul
Publicado 2022