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
Published 2017-01-01

A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C

by Rüya Çolak, Senem Alkan Özdemir, Ezgi Yangın Ergon, Mehtap Kağnıcı, Şebnem Çalkavur
Published 2017-12-01

Urea Cycle Disorders in Neonates: Six Case Reports

by Kıymet Çelik, Demet Terek, Özgür Olukman, Mehtap Kağnıcı, Şükran Keskin Gözmen, Erkin Serdaroğlu, Şebnem Çalkavur, Sertaç Arslanoğlu
Published 2017-06-01

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
Published 2019-06-01

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey

by Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W. Taylor, Garry K. Brown, Mahmut Çoker, Ferda Özkınay
Published 2020-12-01