Early neuroimaging findings of infants diagnosed with inherited metabolic disorders in neonatal period: A case-control study von Koç Yekedüz, Merve, Şen Akova, Birsel, Köse, Engin, Doğulu, Neslihan, Öncül, Ümmühan, Okulu, Emel, Arsan, Saadet, Fitöz, Suat, Eminoğlu, Fatma Tuba

Volltext

ALG1-CDG: A Patient with a Mild Phenotype and Literature Review von Öncül, Ümmühan, Kose, Engin, Eminoğlu, Fatma Tuba

Volltext

International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income count... von Akin, Ezgi Özalp, Pekcici, Bahar Bingoler, Eminoglu, Fatma Tuba

Volltext

Association Between Soluble CD40 Ligand and Hypercholesterolemia in Children and Adolescents von Küçükçongar Yavaş, Aynur, Eminoğlu, Tuba Fatma, Okur, İlyas, Aral, Arzu, Hasanoğlu, Alev, Tümer, Leyla

Volltext

Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies von Doğulu, Neslihan, Köse, Engin, Ceylaner, Serdar, Kasapkara, Çiğdem Seher, Bozaci, Ayşe Ergul, Oncul, Ummuhan, Eminoğlu, Fatma Tuba

Volltext

Inherited metabolic disorders in the neonatal intensive care unit: Red flags to look out for von Eminoğlu, Fatma Tuba, Koç Yekedüz, Merve, Doğulu, Neslihan, Öncül, Ümmühan, Köse, Engin, Okulu, Emel, Erdeve, Ömer, Atasay, Begüm, Arsan, Saadet

Volltext

TMEM70 deficiency: long-term outcome of 48 patients von Magner, Martin, Dvorakova, Veronika, Tesarova, Marketa, Mazurova, Stella, Hansikova, Hana, Zahorec, Martin, Brennerova, Katarina, Bzduch, Vladimir, Spiegel, Ronen, Horovitz, Yoseph, Mandel, Hanna, Eminoğlu, Fatma Tuba, Mayr, Johannes Adalbert, Koch, Johannes, Martinelli, Diego, Bertini, Enrico, Konstantopoulou, Vassiliki, Smet, Joél, Rahman, Shamima, Broomfield, Alexander, Stojanović, Vesna, Dionisi-Vici, Carlo, van Coster, Rudy, Morava-Kozicz, Eva, Sperl, Wolfgang, Zeman, Jiri, Honzik, Tomas

Volltext

Unmet Needs of Children with Inherited Metabolic Disorders in the COVID-19 Pandemic von Özalp Akın, Ezgi, Eminoğlu, Fatma Tuba, Doğulu, Neslihan, Koç Yekeduz, Merve, Öncül, Ummuhan, Akpınar, Funda, Hayran, Gamze

Volltext

Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial Diseases von Gencer Öncül, Emine Begüm, Duman, Duygu, Eminoğlu, Fatma Tuba, Aktuna, Süleyman, Duman, Mustafa Türker

Volltext

Characteristics of continuous venovenous hemodiafiltration in the acute treatment of inherited metabolic disorders von Eminoğlu, Fatma Tuba, Öncül, Ümmühan, Kahveci, Fevzi, Okulu, Emel, Kraja, Elvis, Köse, Engin, Kendirli, Tanıl

Volltext

Serum biotin interference: A troublemaker in hormone immunoassays von Öncül, Ümmühan, Eminoğlu, Fatma Tuba, Köse, Engin, Doğan, Özlem, Özsu, Elif, Aycan, Zehra

Volltext

Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center von Yüksel, Merve Feyza, Doğulu, Neslihan, Yıldırım, Miraç, Köse, Engin, Bektaş, Ömer, Eminoğlu, Fatma Tuba, Teber, Serap

Volltext

Crisponi syndrome: A new case with additional features and new mutation in CRLF1 von Okur, Ilyas, Tumer, Leyla, Crisponi, Laura, Eminoglu, Fatma Tuba, Chiappe, Francesca, Cinaz, Peyami, Yenicesu, Idil, Hasanoglu, Alev

Volltext

Is Ultrasonography a Reliable Approach for the Evaluation of Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis? von Koç Yekedüz, Merve, Köse, Engin, İnci, Aslı, Yüksel, Merve Feyza, Doğulu, Neslihan, Şen Akova, Birsel, Yeniay Süt, Nurşah, Öncül, Ümmühan, Yildirim, Miraç, Fitoz, Suat, Teber, Serap, Tümer, Leyla, Eminoğlu, Fatma Tuba

Volltext

Pros and Cons of Telemedicine for Inherited Metabolic Disorders in a Developing Country During the COVID-19 Pandemic von Koç Yekedüz, Merve, Doğulu, Neslihan, Sürücü Kara, İlknur, Öncül, Ümmühan, Bakirarar, Batuhan, Kullu, Pinar, Ar, Yilmaz, Köse, Engin, Eminoğlu, Fatma Tuba

Volltext

Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals von Zubarioglu, Tanyel, Kıykım, Ertuğrul, Köse, Engin, Eminoğlu, Fatma Tuba, Teke Kısa, Pelin, Balcı, Mehmet Cihan, Özer, Işıl, İnci, Aslı, Çilesiz, Kübra, Canda, Ebru, Yazıcı, Havva, Öztürk-Hişmi, Burcu, Bulut, Fatma Derya, Dorum, Sevil, Akgun, Abdurrahman, Yalçın-Çakmaklı, Gül, Kılıç-Yıldırım, Gonca, Soyuçen, Erdoğan, Akçalı, Aylin, Güneş, Dilek, Durmuş, Aslı, Gündüz, Ayşegül, Kasapkara, Çiğdem Seher, Göksoy, Emine, Akar, Halil Tuna, Ersoy, Melike, Erdöl, Şahin, Yıldız, Yılmaz, Hanağası, Haşmet Ayhan, Arslan, Nur, Aktuğlu-Zeybek, Çiğdem

Volltext

Evaluation of the efficacy and associated complications of regional citrate anticoagulation in neonates: experience from a fourth level neonatal intensive care unit von Köstekci, Yasemin Ezgi, Kendirli, Tanıl, Gün, Emrah, Uçmak, Hacer, Demirtaş, Ferhan, Havan, Merve, Köse, Engin, Okulu, Emel, Eminoğlu, Fatma Tuba, Erdeve, Ömer, Atasay, Begüm, Arsan, Saadet

Volltext

Genetic variants of GBA and GLA in a Turkish cohort of Parkinson's disease: A preliminary report von Yekedüz, Merve Koç, Yilmaz, Rezzak, Kayis, Gorkem, Doğulu, Neslihan, Öncül, Ümmühan, Abali, Talha, Temizyurek, Akar Diyar, Çelik, Gökalp, Çöklü, Hilal, Gemci, Emine, Yalcin, Ahmet, Ceylaner, Serdar, Akbostancı, M Cenk, Eminoğlu, Fatma Tuba

Volltext

Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome von Hakan, Nilay, Eminoglu, Fatma Tuba, Aydin, Mustafa, Zenciroglu, Aysegul, Karadag, Nazmiye Nilgun, Dursun, Arzu, Okumus, Nurullah, Ceylaner, Serdar

Volltext

A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant von Oncul, Ummuhan, Kose, Engin, Eminoglu, Fatma Tuba

Volltext