A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy by Aycan Ünalp, Melis Köse, Pakize Karaoğlu, Yiğithan Güzin, Ünsal Yılmaz

Get full text

A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate by Melis Köse, Ebru Canda, Mehtap Kagnici, Sema Kalkan Uçar, Mahmut Çoker

Get full text

Outcomes of Dyslipidemia Screening Program in School-aged Children by Engin Köse, Melis Köse, Sipil Topçu, Büşra Matur, Buket Barış, Behzat Özkan

Get full text

Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene by Engin Köse, Melis Köse, Selvinaz Edizer, Zeynep Akışın, Zehra Burcu Yılmaz, Ahmet Şahin, Ferah Genel

Get full text

Evaluation of Cardiovascular Involvement and Cytokine Levels in Patients with Mucopolysaccharidosis by Ebru Canda, Melis Köse, Mehtap Kağnıcı, Meral Dondurmacı, Sema Kalkan Uçar, Eser Sözmen, Reşit Ertürk Levent, Mahmut Çöker

Get full text

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application by Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu

Get full text

Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience by Ayşe Ergül Bozacı, Emine Göksoy, Aysel Tekmenuray Ünal, Hatice Mutlu Albayrak, İbrahim Taş, Berat Kanar, Mehmet Nuri Özbek, Melis Köse

Get full text

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey by Ayse Ergül Bozaci, Esra Er, Aysel Tekmenuray Ünal, İbrahim Taş, Ercan Ayaz, Mehmet Nuri Ozbek, Asude Durmaz, Ayçe Aykut, Melis Kose

Get full text

Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey by Melis Kose, Engin Kose, Mehtap Kagnici, Hande Gazeteci Tekin, Burçin Ozen, Taha Reşid Ozdemir, Özgür Kirbiyik, Huseyin Onay, Ünsal Yilmaz, Aycan Unalp

Get full text

Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria by Ebru Canda, Melis Köse, Havva Yazıcı, Esra Er, Cenk Eraslan, Ferda Özkınay, Mahmut Çoker, Sema Kalkan Uçar, Sara Habif, Emin Karaca, Hüseyin Onay

Get full text

Inborn errors of metabolism: a three-year experience by Ferit Kulalı, Melis Köse, Tuğçe Candan Çelik, Ezgi Yangın Ergon, Oğuz Han Kalkanlı, Rüya Çolak, Meral Yıldız, Senem Alkan Özdemir, Tülin Gökmen Yıldırım, Şebnem Çalkavur

Get full text

The effectiveness of the ketogenic diet in drug-resistant childhood epilepsy by Ünsal Yılmaz, Merve Yavuz, Hatice Hilal Kırkgöz, Serdar Pekuz, Serdar Sarıtaş, Bahar Toklu Baysal, Gürkan Gürbüz, Yiğithan Güzin, Melis Köse, Zeynep Akışin, Selvinaz Edizer, Aycan Ünalp

Get full text

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

Get full text