An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib

por Haznedar, Pınar, Eminoğlu, F. Tuba
Publicado 2020

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

Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism

por Okulu, E, Tunc, G, Eminoglu, T, Erdeve, O, Atasay, B, Arsan, S
Publicado 2017

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

Ultrasonographic Evaluation of Gastric Content and Volume in Pediatric Patients Undergoing Elective Surgery: A Prospective Observational Study

por Demirel, Asiye, Özgünay, Şeyda Efsun, Eminoğlu, Şermin, Balkaya, Ayşe Neslihan, Onur, Tuğba, Kılıçarslan, Nermin, Gamlı, Mehmet
Publicado 2023

Unmet Needs of Children with Inherited Metabolic Disorders in the COVID-19 Pandemic

por Özalp Akın, Ezgi, Tuba Eminoğlu, Fatma, Doğulu, Neslihan, Koç Yekeduz, Merve, Öncül, Ummuhan, Akpınar, Funda, Hayran, Gamze
Publicado 2022

Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey

por Kutluk, Muhammet G., Kadem, Naz, Bektas, Omer, Randa, Nadide C., Tuncer, Gökcen O., Albayrak, Pelin, Eminoglu, Tuba, Teber, Serap T.
Publicado 2021

A Novel Variant of COL6A2 Gene Causing Bethlem Myopathy and Evaluation of Essential Hypertension

por Kutluk, M. Gultekin, Kadem, Naz, Bektas, Omer, Randa, Nadide Cemre, Tuncer, Gökcen OZ, Albayrak, Pelin, Eminoglu, Tuba, Teber, Serap Tiras
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

Cross-Cultural Differences in Stigma Associated with Parkinson’s Disease: A Systematic Review

por Karacan, Ahmet Veli, Kibrit, Sema Nur, Yekedüz, Merve Koç, Doğulu, Neslihan, Kayis, Gorkem, Unutmaz, Elif Yüsra, Abali, Talha, Eminoğlu, F. Tuba, Akbostancı, M. Cenk, Yilmaz, Rezzak
Publicado 2023

Deletion of the hfsB gene increases ethanol production in Thermoanaerobacterium saccharolyticum and several other thermophilic anaerobic bacteria

por Eminoğlu, Ayşenur, Murphy, Sean Jean-Loup, Maloney, Marybeth, Lanahan, Anthony, Giannone, Richard J., Hettich, Robert L., Tripathi, Shital A., Beldüz, Ali Osman, Lynd, Lee R., Olson, Daniel G.
Publicado 2017

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