A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate

por Köse, Melis, Canda, Ebru, Kagnici, Mehtap, Uçar, Sema Kalkan, Çoker, Mahmut
Publicado 2017

Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey

por Bozaci, Ayse Ergül, Er, Esra, Ünal, Aysel Tekmenuray, Taş, İbrahim, Ayaz, Ercan, Ozbek, Mehmet Nuri, Durmaz, Asude, Aykut, Ayçe, Kose, Melis
Publicado 2023

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

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

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic a...

por Whittle, Ella F., Chilian, Madison, Karimiani, Ehsan Ghayoor, Progri, Helga, Buhas, Daniela, Kose, Melis, Ganetzky, Rebecca D., Toosi, Mehran Beiraghi, Torbati, Paria Najarzadeh, Badv, Reza Shervin, Shelihan, Ivan, Yang, Hui, Elloumi, Houda Zghal, Lee, Sukyeong, Jamshidi, Yalda, Pittman, Alan M., Houlden, Henry, Ignatius, Erika, Rahman, Shamima, Maroofian, Reza, Yoon, Wan Hee, Carroll, Christopher J.
Publicado 2023

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